- ASHG 2015 Annual Meeting
- Poster Sessions Listing
Poster Sessions Listing
Reviewers' Choice Abstracts
391T The functional MTHFR C677T polymorphism modulates global DNA methylation and associates with non-random differentially methylated regions (DMRs) in autism spectrum disorder. A. J. M. McNaughton.
392F Alignment and methylation analysis of tandem repeat elements in cancer using targeted next-gen bisulfite sequencing. J. Alexander.
393T Integrating single-base resolution quantitative epigenomic and transcriptomic sequence data to analyze differential gene expression in normal and tumor liver tissue samples. K. R. Booher.
394F Characterization of differential DNA methylation in transcription factor binding sites across human cancers. B. N. Lasseigne.
395T HiTMAP: A High-Throughput Methylation Analysis Program for targeted bisulfite sequencing. B. S. Pullman.
396F A systematic study of normalization methods for Infinium 450K methylation data using whole-genome bisulfite sequencing data. T. Wang.
397T Microsatellite Instability (MSI) is associated with differential DNA methylation in colorectal carcinoma and may have interaction with location of the tumor. F. Jasmine.
398F DNA methylation landscape of sporadic and melanoma-prone patients. A. C. V. Krepischi.
399T Quantification and application of potential epigenetic markers in maternal plasma of pregnancies with hypertensive disorders. H. J. Kim.
400F Abnormal DNA methylation in T-lymphocytes from patients with CF. E. Kvaratskhelia.
401T Early prediction of hypertensive disorders of pregnancy using maternal characteristics, epigenetic markers and serum markers. S. Y. Kim.
402F Missing data imputation using genome-wide DNA methylation data. W. Guan.
403T A genome-wide study of DNA methylation and prediction of diabetic nephropathy. G. D. Fufaa.
404F Comparison of DNA methylation profiles in sib-pairs discordant for intrauterine exposure to maternal gestational diabetes mellitus. S. Kwak.
405T DNA methylation may mediate the association of cigarette smoking and prostate cancer progression. I. M. Shui.
406F DNA methylation at residue cg05575921 in the aryl hydrocarbon receptor repressor is the most sensitive and specific indicator of smoking status in epigenome. A. Andersen.
407T Estimation of cell type specific DNA methylation effects using whole blood methylation data. R. Barfield.
408F Genome-wide DNA methylation signatures of salivary gland inflammation in Sjögren’s Syndrome. M. B. Cole.
409T DNA methylation profiles in ADHD: Comparison between boys and girls. T. V. M. M. Costa.
410F A genome-wide analysis of differential methylation regions in the nucleus accumbens of rhesus macaques after long-term alcohol use. B. Ferguson.
411T Intra-individual dynamics of transcriptome and genome-wide stability of DNA methylation during three months. R. Furukawa.
412F Characterizing a genomic map of 5-hydroxymethylcytosine in human brain at single base resolution through next-generation sequencing. J. A. Gross.
413T Strong components of epigenetic memory in cultured human fibroblasts. N. A. Ivanov.
414F Epigenome characterization of human genomes using the PacBio® platform. J. Korlach.
415T M-QTL analysis between asthma GWAS loci and DNA methylation interactions. A. Kumar.
416F DNA methylation score as a biomarker in newborns for sustained maternal smoking during pregnancy. S. J. London.
417T Whole-genome bisulfite sequencing data from multiple human tissues reveal novel CpG island loci of tissue-specific regulation. I. Mendizabal.
418F Epigenome-wide association study suggests that SNPs in the promoter region of RETN influence plasma resistin level via effects on DNA methylation at neighboring sites. M. Nakatochi.
419T Epigenetic regulation of differential HLA-A allelic expression levels. V. Ramsuran.
420F Epigenome-wide association analyses of healthy human skin and blood DNA methylation profiles in relation to total body nevus count. L. Roos.
421T DNA methylation profiling of brains of Parkinson disease patients. S. K. Sivasankaran.
422F Genome-wide DNA methylation changes in the dorsal and ventral striatum of individuals with chronic cocaine dependence. K. Vaillancourt.
423T Preliminary study on genome wide methylation profile of liver biopsies in HCV infected patients with severe hepatic fibrosis. L. R. S. Vasconcelos.
424F Epigenetic suppression of VEGF in retinal pigment epithelial cells by vitamin C. G. Wang.
425T Set-based methods for DNA methylation analysis. Q. Yan.
426F Comprehensive identification of osteoblast-specific DNA methylation signatures. F. Yu.
427T Integration of DNA methylomic and transcriptomic changes in postmortem prefrontal cortex of subjects with alcohol use disorders. H. Zhang.
428F Epigenome-wide assoication in host genome for HIV infection. K. Xu.
429T Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. K. Yamazawa.
430F Peripheral blood DNA methylation markers associated with abstinence among chronic injection drug users in the ALIVE study. K. M. Bakulski.
431T Identification of housekeeping genes for DNA methylation study across different human ethnicities and tissues. D. P. Chen.
432F DNA methylation changes observed in rheumatoid arthritis joint tissue are detectable in CD4+ naive T cells from peripheral blood. C. Holingue.
433T Comparing variability in the SeqCap Epi CpGiant and the Illumina 450k methylation microarray for characterizing the human methylome. A. C. Just.
434F A DNA methylation signature of alcohol consumption. C. Liu.
435T Genome-wide analysis of DNA methylation identifies a novel locus associated with bone mineral density. J. A. Morris.
436F Adjusting Infinium methylation profiles to suppress signals from varying cell proportion. G. W. Nelson.
437T Improvements to existing QC tools for methylation 450K arrays. J. Romm.
438F Lifestyle and biological age in a cohort study: Methylation age vs telomere length. A. Russo.
439T Estimating and accounting for cell type composition in analysis of sequencing based methylation data. A. A. Shabalin.
440F Determining the DNA methylation landscape of human pancreatic islets using whole-genome bisulphite sequencing to characterise Type 2 Diabetes GWAS regions. M. Thurner.
441T Detection of differentially methylated regions using both mean and variance differences. Y. Wang.
442F Preliminary analysis of genome-wide methylation qualitative trait loci for HIV infection. X. Zhang.
443T Systematic identification of downstream trans-effects for 1,900 known disease associated SNPs. M. J. Bonder.
444F Race Specific Differential DNA Methylation Marks of COPD. R. Busch.
445T Masculinizing gene expression and DNA methylation in XX neural stem cells and their differentiated progeny by a single exposure of testosterone: An in vitro approach of understanding hormonal organization. M. Bramble.
446F Integrative approach for functional methylation loci with next-generation sequencing. H. Xu.
447T Oxidative stress pathways implicated in comprehensive epigenetic and transcriptomic assessment of adult hippocampus from fetal ethanol-exposed mice. E. J. Diehl.
448F High SUMO E3 ligase PIAS1 protein expression in Breast Cancer Luminal A molecular subtype. A. Mannermaa.
449T Histone Binding Strength is Quantitatively Associated with Gene Expression Across Individuals. K. Fletez-Brant.
450F Inter-species comparison of endothelial cell gene regulation reveals the conserved control of vascular disease genes. A. Medina Rivera.
451T Effect of natural variation in copy number on epigenetic patterning. J. Yu.
452F Methylation alterations of LINE-1 and imprinting genes related to folate deficiency during embryo development. L. Wang.
453T Investigating Imprinting As A Mechanism For The Development Of Asthma and related phenotypes In Two Canadian Birth Cohorts. A. Eslami.
454F Somatic cell hybrids as a model system to evaluate genome editing and genomic imprinting of pig chromosomes in the development of pre-clinical large animal models. R. D. Nicholls.
455T Analysis of monoallelic expression in 1084 human individual cells revealed novel putative imprinted genes. C. Borel.
456F Tissue-specific maps of genomic imprinting across the mammalian phylogeny reveal causal evolutionary pressures. T. Babak.
457T Genome-wide DNA methylation profiles in twins with autism spectrum disorders. A. Anhalt.
458F Longitudinal differences in DNA methylation profile of twins reared apart and together. A. Ganna.
459T Is familial correlation in genome-wide DNA methylation level due to sharing the womb or genes? S. Li.
460F Integrative Methods to Characterize X Chromosome Inactivation Patterns in Epithelial Ovarian Cancer. S. Winham.
461T Oxytocin and Religious Brain. J. R. Korenberg.
462F Val158Met polymorphism in COMT affects the brain's white matter properties during second language immersion. P. Mamiya.
463T Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion dental pulp stem cell derived neurons. N. Urraca.
464F FXN promoter silencing in the humanized mouse model of Friedreich ataxia. Y. Chutake.
465T Chromatin accessibility in the mammalian retina: Potential impact on studies of human retinal and macular degeneration. F. Giuste.
466F Locally adaptive comparison of DNase I profiles to detect fine scale differences in regulatory activity. J. Morrison.
467T ChIP-seq identifies the target genomic loci of the SMARCA6 helicase in human hematopoietic neoplasms. J. A. Welch.
Therapy for Genetic Disorders
468W Morpholino oligomers as a potential therapeutic option for correction of defective alternative splicing. S. Tantzer.
469T Seeking drugs for Pelizaeus-Merzbacher disease using drug repositioning approach targeting a novel cellular pathology. K. Inoue.
470W Rapamycin as a novel treatment for vascular malformations caused by somatic mutations that activate the PI3K>AKT signaling pathway. L. Boon.
471T The Inflammasome: A Novel Concept in VCP Disease. A. Nalbandian.
472W Efficacy and Safety of Diazoxide Choline Controlled-Release Tablet in Patients with Prader-Willi syndrome. A. Surampalli.
473T Histone Deacetylase Inhibitor Reverses Promoter Silencing in Friedreich Ataxia. S. Bidichandani.
474W Phase 3 and long-term extension study with migalastat, a pharmacological chaperone, demonstrate stable renal function, reduced left ventricular mass and gastrointestinal symptom improvement in patients with Fabry disease. D. P. Germain.
475T Hydroxyurea induces γ-globin expression through microRNAs-mediated actions in human hematopoietic and K562 erythroleukemia cells. D. G. Pule.
476W High-content screening for small molecule inhibitors of facioscapulohumeral dystrophy. S. J. Palmer.
477T The small molecule aldehyde trap NS2 represents a pharmacological approach to enzyme replacement therapy for SSADH deficiency (SSADHD). G. R. Ainslie.
478W Effects of oral eliglustat on bone parameters in treatment-naïve patients with Gaucher disease type 1: results from the phase 3, randomized, placebo-controlled ENGAGE trial after 18 months. P. Mistry.
479T Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase to eliglustat or imiglucerase: a sub-analysis of the eliglustat ENCORE trial. R. Pleat.
480W Gene Expression Profiling of Whole Blood from TNF Receptor-Associated Periodic Syndrome (TRAPS) Patients to Understand Response to Canakinumab Treatment. R. I. Torene.
481T Impact of NGS in rare diseases: Identification of novel biological pathways and therapeutic development in nemaline myopathy. V. A. Gupta.
482W Systemic induced loss of NF1 in adult mouse is lethal. A. N. Turner.
483T Caveolae-mediated uptake of a-galactosidase A in Fabry disease in vitro systems. E. Changsila.
484W Development of an Intrathecal Enzyme Replacement Therapy for Sanfilippo Syndrome Type D (Mucopolysaccharidosis IIID). D. R. Moen.
485T Comparison of taliglucerase alfa 30 U/Kg and 60 U/Kg in treatment-naïve pediatric patients with Gaucher disease. M. P. Wajnrajch.
486W Long-term safety and efficacy of taliglucerase alfa in pediatric patients with Gaucher disease who were treatment-naïve or previously treated with imiglucerase. A. Zimran.
487T Eteplirsen, a Phosphorodiamidate Morpholino Oligomer (PMO) for Duchenne Muscular Dystrophy (DMD): Clinical Update. E. M. Kaye.
488W CRISPR-Cas9 as a potential therapeutic tool for the Bardet-Biedl Syndrome (BBS) M390R mutation in vitro and in vivo. M. R. Cring.
489T Promoterless gene-targeting using adenoassociated viral (AAV)-mediated homologous recombination to treat methylmalonic acidemia. R. J. Chandler.
490W Choroid plexus-targeted viral gene therapy in an alpha-mannosidosis mouse model increases brain LAMAN activity globally and eliminates brain pathology. E. Choi.
491T Development of a stem cell/gene therapy approach to treat Sanfilippo syndrome type B. D. Clarke.
492W Rescue of Diamond-Blackfan Anemia haploinsufficiency by knock-up of the deficient protein. I. Dianzani.
493T CSF-directed AAV9 gene therapy plus subcutaneous copper provides superior rescue in a mouse model of Menkes disease. M. R. Haddad.
494W CRISPR-Cas9 Mediated Genome Editing of Myocilin in Hereditary Glaucoma. A. Jain.
495T Spell-Checking Nature: Versatility of CRISPR/Cas9 for the Treatment of Inherited Disorders. D. U. Kemaladewi.
496W Broad Therapeutic Window for Retinitis Pigmentosa. S. F. Koch.
497T Pre-clinical development of a genetically-modified human dermal fibroblast (FCX-007) for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). M. P. Marinkovich, MD.
498W Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome. S. Nakamura.
499T Engineering Recurrent, Reciprocal Genomic Disorders using CRISPR/Cas9 in Human iPS Cells. D. Tai.
500W Chimeric U2 small nuclear RNA-DMPK trans-splicing molecule reverses pre-mRNA splicing defects in myotonic dystrophy type 1. P. S. Lai.
501T Silencing of Important Molecules Having Roles in Pathogenesis of Idiopathic Pulmonary Fibrosis via RNA interference and Development of New Therapeutic Modalities. O. F. Hatipoglu.
502W Potential benefit of CSF1R mosaicism in a family with Hereditary Diffuse Leukoencephalopathy with Spheroids. F. S. Eichler.
503T Gluten-free diet is a cornerstone of Ehlers-Danlos syndrome management. K. Angione.
504W Transcriptome Comparison of Rat and Human Schwann Cells. D. Sant.
505T The NIGMS Human Genetic Cell Repository at the Coriell Institute: A research participation opportunity for individuals with inherited diseases and chromosomal abnormalities. N. Turan.
506W Accelerate R&D in genetic diseases for diagnostic and therapy: Initiatives from the International Rare Disease Research Consortium (IRDiRC). S. Ayme.
507T The ketogenic diet rescues defects of hippocampal neurogenesis in a mouse model of Kabuki syndrome. J. S. Benjamin.
508W Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal Microarray and Whole Exome Sequencing. P. S. Kruszka.
509T A comprehensive sequence analysis of 22 tRNA genes identified a critical role of mitochondrial defects in hypertension. M. Wang.
510F PNPLA3 rs738409 is associated with APRI, a clinical predictor of hepatic fibrosis that shows association with left ventricular mass: The Strong Heart Family Study. S. Cole.
511W Functional variants in a clinical setting: an example using APOC3 R19X and extreme triglyceride levels extracted from electronic health records. D. C. Crawford.
512T Striatin is a novel risk gene for human dilated cardiomyopathy. M. Dasouki.
513F Testing population-specific quantitative trait associations for clinical outcome relevance in a biorepository linked to electronic health records: LPA and myocardial infarction in African Americans. L. Dumitrescu.
514W APOL1 risk allele is associated with early diagnosis of hypertension and a 2-3 mmHg increase in systolic blood pressure in young African American adults. G. Galarneau.
515T MyBPH acts as a modifier of hypertrophy in patients with hypertrophic cardiomyopathy. C. J. Kinnear.
516F Functional genomic analysis of blood and cardiac tissue during ischemia reperfusion (IR). D. McDaniel.
517W Rare coding variants associated with blood pressure in ~13,000 individuals of African ancestry. P. Nandakumar.
518T The contribution of common and low-frequency/rare variants in ATP-binding cassette A1 (ABCA1) to lipoprotein-lipid traits. V. Niemsiri.
519F Diastolic blood pressure and intraocular pressure gene variants in relation to primary open-angle glaucoma. L. R. Pasquale.
520W Sequencing of PEAR1 to identify rare and novel genetic determinants of platelet aggregation. M. A. Taub.
521T Exome sequencing identifies a possible new candidate gene associated with thoracic aortic aneurysms and dissections. Y. Wan.
522F Discovery of a deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion, uncovers a recessive condition characterized by severe congenital heart defects. H. Yu.
523W Rare variants in primary cilium genes may contribute to the risk of AVSD in children with Down syndrome. H. Corbitt.
524T Prediction of causal regulatory DNA variants regulating the QT interval phenotype. D. Lee.
525F Familial Combined Hyperlipidemia Is a Genetically Heterogeneous Disorder. J. T. Rämö.
526W Pathogenetic study at the intersection of Marfan syndrome and autosomal dominant polycystic kidney disease. D. Schepers.
527T STEM9, a novel non-coding RNA on chromosome 9p21, is downregulated in coronary artery calcification. S. K. Sen.
528F Novel MYLK gene mutation in a Large Family with Fatal Aortic Aneurysm and Dissection: Delineation of the Clinical phenotype. A. Shalata.
529W Genetic variants near IRS1, body fat percentage and metabolic traits in Hispanics/Latinos from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Q. Qi.
530T Inter-individual variation in DNA methylation levels in PLAT and STX2 genomic regions contribute to variation in Tissue Plasminogen Activator plasma levels. N. Zwingerman.
531F Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension. G. Wang.
532W Association of Glutathione S- transferase M1 and T1 gene polymorphisms in South Indian stroke patients. Usha. P.
533T Sequencing and Functional Validation Identifies Low Frequency Noncoding Variants at Chromosome 4q25 Underlying Atrial Fibrillation. S. Lubitz.
534F Identification of wide-spread allele-specific expression at lipid GWAS loci. M. Alvarez.
535W Identification of a homozygous mutation in PLXND1 in patients with a complex phenotype featuring truncus arteriosus and abnormal pulmonary venous return with predisposition to Hirschsprung disease and neuroblastoma. C. Gordon.
536T Mutations in TAX1BP3 cause Dilated Cardiomyopathy with Septo-Optic Dysplasia. E. Reinstein.
537F Impaired PIEZO1 function in patients with a novel autosomal recessive congential lymphatic dysplasia. B. Krock.
538W Contribution of CRELD1 novel mutations and Polymorphisms in occurrence of AVSD among DS patients seen In North Indian population. A. Asim.
539T Cost analysis and strategy in molecular diagnosis of familial hypertrophic cardiomyopathy: From Sanger to next generation sequencing. D. A. Coviello.
540F Implementation of diagnostic whole exome sequencing to improve diagnostic yield of genetic testing for patients with thoracic or abdominal aortic aneurysm. H. T. Bruggenwirth.
541W The genetics of inherited cardiac conditions. B. Chong.
542T Clinical and molecular lessons from targeted next generation sequencing of 51 genes involved in primary electrical disease. B. Loeys.
543F Target NGS extended panel for inherited cardiomyopathies: evaluating the increased diagnostic yield in hypertrophic cardiomyopathy. J. D. C. Marsiglia.
544W WES as a first and second-tier test for arrhythmia and cardiomyopathy. A. A. Singleton.
545T Lack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants. C. Caleshu.
546F Whole genome sequencing is a clinically effective strategy for inherited cardiac disorders. P. A. James.
547W Molecular diagnosis of generalized arterial calcification of infancy (GACI). K. Iravathy Goud.
548T APOE genotype influences acute phase lipid changes in response to intracerebral hemorrhage. C. D. Anderson.
549F Knockout mice for the cardiac repolarization regulator Nos1ap display partial lethality and increased heart mass. D. R. Auer.
550W Response-eQTLs of human left ventricular tissue after ischemia. T. Chang.
551T Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction. E. E. Davis.
552F Genomic Subsets and Cell Types Contribute to the Polygenicity and Heritability of Coronary Artery Disease. R. Do.
553W Gene silencing and haploinsufficiency of Jag1 in GWAS locus 20p12.2 increase blood pressure. J. Kang.
554T The role of the anti-oxidant enzymes SOD2 and catalase in the pathogenesis of pulmonary arterial hypertension. R. D. Machado.
555F Mechanical Stability of the Aorta in a Col3a1 Mouse Model. J. Meienberg.
556W Cardiomyopathy in sialic acid deficient GNE myopathy. L. Mian.
557T Blood-Pressure Associated Variants in Natriuretic Peptide Receptor C Affect Human Vascular Smooth Muscle Cells Proliferation and Angiotensin II-Stimulated Calcium Response. M. Ren.
558F Apolipoprotein L1 genetic variants are associated with incident chronic kidney disease but not incident cardiovascular events in a population referred for cardiac catheterization. H. Wang.
559W Regulation of postprandial lipid homeostasis by TM6SF2 . N. Zaghloul.
560T Role of Genetic Variants in Cholesteryl Ester Transfer Protein in Risk of Myocardial Infarction and Response to Therapy. K. Hartmann.
561F Increased DNA damage and mutagen sensitivity: A new genetic modifier in pulmonary arterial hypertension? K. M. Drake.
562W SLC39A8 polymorphism influences cellular cadmium uptake and toxicity via signalling pathway activation in relation to hypertension. R. Zhang.
563T Genetics of gene expression regulation in a case-control study for acute myocardial infarction in a Pakistani population. N. I. Panousis.
564F A novel functional VKORC1 promoter polymorphism (rs397509427) and Warfarin resistivity in Indian patients. T. Shukla.
565W The Gly364Ser variant in the Catestatin domain of Chromogranin A enhances the risk for hypertension in Indian populations. M. Kiranmayi.
566T Functional Interrogation of an Intronic SNP in SMAD3 Linked to CAD (Coronary Artery Disease). A. Turner.
567F Integrity of induced pluripotent stem cell (iPSC) derived megakaryocytes as assessed by genetic and transcriptomic analysis. K. Kammers.
568W Elevated levels of oxidative DNA damage and folate gene polymorphisms in children with congenital septal defects and their mothers. s. B. Sunayana.
569T A Gene-by-Environment Interaction Informs Aortic Segment-Specific Vulnerability for Aneurysm Formation in Mendelian Aortopathies. N. Wilson.
570F Notch1 haploinsufficiency under the influence of maternal hyperglycemic environment increases risk of congenital heart defects by an epigenetic mechanism. M. Basu.
571W Common Genotype and Environmental Risk Factors of Myocardial Infarction and High Blood Cholesterol in a Retrospective Population Study. Y. Liang.
572T Utilizing gene expression to uncover genotype-dependent effects of BMI in multiple tissues. C. A. Glastonbury.
573F What next after GxE GWAS: A bioinformatic functional characterization of the EBF1 gene and stress interaction signal. A. Singh.
574W Comprehensive analysis of established dyslipidemia-associated loci in the Diabetes Prevention Program. T. V. Varga.
575T Understanding the Biological Basis of G×E Interactions in Cardio-metabolic Disease: Methylation Profiles, Genetic Variation and Caregiver Stress. R. Jiang.
576F Genome-wide association study identifies variants that predict survivorship in individuals with coronary artery disease. J. R. Dungan.
577W Comprehensive characterization of the genetic architecture of sudden cardiac death. F. N. Ashar.
578T DNA methylation profiling identifies a locus near a HMG-CoA synthase gene associated with triglyceride levels and modified by BMI. F. Gagnon.
579F Coronary Collateralization Shows Sex and Ethnic Differences in the Presence of Obstructive Artery Disease. Z. Liu.
580W Exome chip meta-analysis identifies novel loci contributing to lipid levels in Asian population. X. Lu.
581T Molecular basis of regulatory variation at coronary heart disease associated loci. C. L. Miller.
582F A genome-wide association study of ischemic stroke and its subtypes identifies a novel locus near TSPAN2. S. L. Pulit.
583W Chromosome 22q11 microdeletion syndrome: Association of congenital heart disease with copy number variants. G. Repetto.
584T Causal effect of blood plasminogen activator inhibitor type 1 level on increased risk of coronary heart disease. C. Song.
585F Genetic determinants associated with BP phenotypes. N. Vasudeva.
586W Genome-wide association study of CVD-related loci with lipid traits in the Heart Strategies Concentrating on Risk Evaluation (Heart SCORE) study. X. B. Wang.
587T CETP genotype is associated with phenotypic variability of HDL among other loci identified in a lipid vQTL study. Y. Ma.
588F Genome-wide Association Studies Meta-analysis on Long Term Average Blood Pressure among Asian Population. C. Li.
589W PIK3CG rQTL for blood pressure (SBP & DBP) modifies CHD/LDL and CHD/DBP relationships among other rQTL and GxG found in a blood pressure rQTL screen. T. J. Maxwell.
590T A smoking and diabetes status stratified analysis of peripheral arterial disease (PAD) identifies new loci and variants that my interact with these risk factors to modify the risk of PAD. N. R. van Zuydam.
591F GDF-15 gene variants influence GDF-15 levels, an independent prognostic marker for cardiovascular events. N. Eriksson.
592W Population-specific genomics identifies predictor of venous thromboembolism in African Americans. W. Hernandez.
593T Genome-wide association study with 1000 Genomes imputation identifies 7 new loci associated with blood-pressure traits in African-American population. J. Liang.
594F Identification of genetic loci associated with heart rate variability by the VgHRV consortium. I. M. Nolte.
595W Genome-wide association analysis of self-reported blood clots in 6,135 research participants identifies 8 loci associated with thrombosis. M. Sabater-Lleal.
596T Meta-analysis of exome chip for platelet count and mean platelet volume identifies novel common and rare loci. J. D. Eicher.
597F Simvastatin and RORα Ligands Increase AMP-Activated Protein Kinase (AMPK) Level In vitro. N. Coban.
598W Better Characterization of Coronary Artery Disease Across Multiple Tissues Achieved through Improvement of Bayesian Networks Using Causal Inference Testing. A. Cohain.
599T From Death to Life/Back to the Future: Detailed premorbid clinical and family history can save the lifes and adress the final diagnosis in sudden unexplained deaths with negative autopsy. S. G. Temel.
600F Multivariate genome-wide association analysis of circulating cellular adhesion protein levels in the Multi-Ethnic Study of Atherosclerosis. N. B. Larson.
601W Differential mRNA and miRNA gene expression in hypertensive and non-hypertensive women is influenced by race. D. F. Dluzen.
602T Discovery of gene networks in monocytes with evidence of mediating the protective effects of HDL-cholesterol on monocytes function. R. A. Verdugo.
603F Extensive Transcriptional Changes in Hypertrophied Cardiomyocytes Derived from Human iPSCs. W. Li.
604W Increased mutational burden is associated with more severe presentation in left ventricular noncompaction. M. Bainbridge.
605T Dilated cardiomyopathy-associated long intergenic non-coding RNAs in zebrafish cardiac transcriptome. L. Wang.
606F Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver Syndrome. J. A. N. Meester.
607W Recessive MYH6 mutations in hypoplastic left heart with reduced ejection fraction. J. Theis.
608T Novel FLNC truncation variants found in a large cohort of dilated cardiomyopathy cases. R. L. Begay.
609F A unique case of multisystemic smooth muscle dysfunction syndrome with expanding genotype-phenotype correlations. G. Bhat.
610W Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. G. Costain.
611T Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot. J. Goodship.
612F Genetic Causes for Congenital Heart Disease with Neurodevelopmental and Other Deficits. J. Homsy.
613W Utilization of Whole-Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. S. LaHaye.
614T Search for Novel Mutations Predisposing to Ventricular Fibrillation Without Overt Cause. J. T. Leinonen.
615F Whole exome sequencing identified known and novel genetic causes for pulmonary arterial hypertension. L. Ma.
616W Whole exome sequencing in 41 Czech families with inherited cardiovascular disorders: Initial data from a representative Central European population. M. Macek.
617T Investigating the role of somatic mutation in congenital heart disease. D. E. Miller.
618F Exome Analysis in 36 Unrelated Patients with Pregnancy-Associated or Peripartum Cardiomyopathy Demonstrates a Rare Variant Basis. A. Morales.
619W Connective tissue disorders presenting severe arterial tortuosity in the perinatal period. H. Morisaki.
620T Whole exome sequencing, blood lipids, and cardiovascular outcomes in 31,000 participants in the Regeneron Genetics Center – Geisinger Health System (DiscovEHR) human genetics collaboration. C. O'Dushlaine.
621F Identification of Novel Risk Genes for Venous Thromboembolism using Rare Coding Variant Burden Analysis in the GIFT and ELATE/DODS Cohorts. A. Ozel.
622W Loss-of-function LOX mutations cause thoracic aortic aneurysms and acute aortic dissections. E. S. Regalado.
623T Clinically relevant variants identfied in thoracic aortic aneurysm patients by research exome sequencing. J. A. Schubert.
624F Association of a single nucleotide polymorphism variant in the SCUBE1 gene with Coronary Artery Calcium score in the ClinSeq® Study. H. Sung.
625W Arterial tourtosity in two Turkish pediatric patients with novel homozygous missense mutations in the SLC2A10 gene. F. Uysal.
626T Genetic testing practices in pediatric cardiomyopathy: Identifying opportunities to positively impact diagnosis and family-based risk stratification. S. M. Ware.
627F Identification of Second-hit Mutations in Known CHDs Causative genes in 22q11DS Patients with Conotruncal Heart Defects by Whole-exome Sequencing. T. Guo.
628W Sequence Data Processing and Analysis of the first 20,000 Human Genomesin the NHLBI TopMed Program. G. R. Abecasis.
629T Identifying low frequency and rare coding variation influencing cardiometabolic traits through whole exome sequencing of 20,000 Finns: The FinMetSeq Study. A. E. Locke.
630F Possible pathological events involved in dilated cardiomyopathy. M. L. Satyanarayana.
631W Effects of rare coding variants at NOS1AP and other genes encoding intercalated disc proteins on the electrocardiographic QT interval. A. Kapoor.
632T Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. B. Yu.
633F First evidence of association between MTHFR C677T polymorphism and Rheumatic Mitral Value Disease. S. Justin Carlus.
634W A phenome-wide scan to detect pleiotropic effects of the loss of function R46L variant in PCSK9. M. S. Safarova.
635T Leveraging the uniqueness of family studies in the search for coding variants for blood pressure: An exome array study in African American cohorts. X. Zhu.
636F Somatic/mosaic mutations are an important cause of sporadic vascular anomalies. M. Vikkula.
637W Large-scale analysis of population titin truncations reveals these variants are rarer than previously estimated. O. Akinrinade.
638T Association of variation in 82 pharmacogenes with low-density lipoprotein cholesterol levels in the eMERGE-PGx project. I. J. Kullo.
639F Defining the Genetic Landscape of Pulmonary Arterial Hypertension Using Whole-Genome Sequencing. S. Gräf.
640W Testing causality in the association of plasma cortisol with risk of coronary heart disease: a Mendelian randomisation study. A. A. Crawford.
641T Possibly Pathogenic Copy Number Variations Identified in Patients with Hemorrhagic Stroke. A. Donatti.
642F Concordance in classification of hypertrophic cardiomyopathy variants is markedly higher among expert centers than among clinical labs. A. Furqan.
643W Detection of eQTLs in Human Left Atrium and their association with Atrial Fibrillation Using Hidden Expression Factor Analysis. M. Heydarpour.
644T Co-Aggregation of Depression and Cardiovascular Diseases. S. Knight.
645F Gene frequencies of the GSTT1 and GSTM1 genes in Ramgarhia Sikh population of Amritsar District and association with coronary artery disease. N. Mahajan.
646W Differential genetic expression in ECG characterized normokinetic and akinetic/dyskinetic myocardium zones in humans. O. A. Makeeva.
647T Heritability of age of onset of cardiovascular disease using large-scale Finnish health registry and genome-wide data. C. Benner.
648W Genetic polymorphism of P2RX7 can be a predictive biomarker for responsibility to long-term effect of infliximab against Crohn’s disease. M. Yoshimura.
649T Association between KCNJ6 (GIRK2) gene polymorphism rs2835859 and postoperative analgesia, pain sensitivity, and nicotine dependence. D. Nishizawa.
650W Genetic polymorphisms in the neuroplasticity-related genes contribute to the therapeutic effect of antidepressants for major depression. Y. Kawafuchi.
651T Genetic risk factors for β-lactam antibiotic-induced cutaneous adverse drug reactions in Japanese population. T. Ozeki.
652W PCSK9 variants are associated with LDL-C response to statin therapy in African-Americans. Q. Feng.
653T Identification of genetic and environmental factors that influence time to achieve target INR and time in therapeutic range with warfarin. M. R. Botton.
654W SNP-based HLA tagging, imputation, and association in adverse drug reaction of epilepsy patients from Hong Kong. S. S. Cherny.
655T Differential allele and haplotype frequencies in the ADME genes ABCB1 and NAT2 in Mexican population. A. V. Contreras.
656W Molecular Markers of Blood Pressure Response to Thiazide Diuretics Identified Through Whole Transcriptome RNA-Seq Analysis. A. Costa Sa.
657T Distribution of allele frequencies for clinically relevant pharmacogenes in Mexican population. J. C. Fernandez-Lopez.
658W Influence of genetic variability on platelet aggregation in clopidogrel-treated patients of the International Clopidogrel Pharmacogenomics Consortium (ICPC). J. Lewis.
659T Investigating Genetic Variants of IL-1β, IL-2, IL-6, TSPO, and BDNF in Association with Treatment Response to Duloxetine and Placebo Treatment in Patients with Major Depression. V. S. Marshe.
660W Spindle and Kinetochore Associated Complex Subunit 2 (SKA2) May Play a Role in Response to Citalopram. A. J. Lisoway.
661T Genetic Risk, Smoking Cessation, and the Clinical Benefits of Pharmacotherapy. L. Chen.
662W A common missense variant of LILRB5 is associated with statin intolerance: A GoDARTS study. M. K. Siddiqui.
663T Fucosyltransferase 2 polymorphism (FUT2, rs492602) associates with vitamin B12 deficiency, but may be independent with proton pump inhibitor or metformin usages, diabetes mellitus, and thyroid diseases. H. Mo.
664W Applying genetics in inflammatory disease drug discovery. L. Folkersen.
665T Novel genetic loci for resistant hypertension discovered through a genome-wide association approach (GWAS) in the INternational VErapamil SR-Trandolapril STudy (INVEST) and the Secondary Prevention of Subcortical Strokes (SPS3) Study. N. El Rouby.
666W A Genome-wide Association and Admixture Mapping Study of Bronchodilator Response in African Americans with Asthma. M. L. Spear.
667T Pharmacogenetics of Acute Coronary Syndrome. P. Yin.
668W Using polygenic risk scores to guide antipsychotic dosage in a geriatric schizophrenia population. N. Hettige.
669T Partitioning the polygenic inheritance of paclitaxel-induced peripheral neuropathy. E. A. Khramtsova.
670W A Variant in UGT2A1/2 is Associated with Sex-Specific Clopidogrel Response. A. S. Fisch.
671T Prevalence of CYP2D6*4 allele in a Northern Mexican Mestizo population for the assessment of tamoxifen metabolism. J. E. Gaytán-Arocha.
672W A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. D. Jawaheer.
673T Meta-analysis of the genome wide association studies (GWAS) on the intolerance of angiotensin converting enzyme inhibitors (ACEIs). C. N. A. Palmer.
674W Identifying a Novel Hypertension Genetic Signature Influencing the Blood Pressure Response to Hydrochlorothiazide Treated Patients. M. H. Shahin.
675T Robust Heritability Estimation of Anti-TNF Treatment Response Phenotypes in Rheumatoid Arthritis. K. A. Standish.
676W CYP2D6 Gene Variants and Effectiveness of Adjuvant Tamoxifen in Breast Cancer: A Population-Based Case-Control Study. C. S. Richards.
677T Assessment of Knowledge and Comfort of Healthcare Providers in the Development of a User-Friendly Pharmacogenomics Report. C. A. Campbell.
678W Development and comparison of warfarin dosing algorithms in stroke patients. S. Cho.
679T The identification of hematologic adverse drug events using the electronic health record in the eMERGE PGx cohort, in relation to pharmacogenetic variation. D. Crosslin.
680W Automated CYP2D6 diplotype assignment using whole genome sequences. A. Gaedigk.
681T Comprehensive study of NAT2 acetylation status in the Greenlandic population. F. Geller.
682W Rapid implementation of a system-wide, high-throughput, EHR-integrated pharmacogenetics clinical service through cloud-based software automation. M. Landsverk.
683T Exome sequencing outperforms chip-based testing for clinically useful pharmacogenetic variant interrogation: Implications for preemptive pharmacogenetic evaluation. D. Ng.
684W PGRN-seq v.2: A second-generation capture-sequencing reagent for prospective targeted sequencing of clinically relevant pharmacogenetic loci. S. Scherer.
685T Pharmacogenetics of antipsychotic dosing. V. De Luca.
686W A Missense Mutation in SVEP1 Influences On-Clopidogrel Platelet Aggregation in a Sex-Specific Manner. J. Backman.
687T Effect of SLCO2B1 Gene Polymorphism on the Lipid Lowering Effect of Rosuvastatin in Hypercholesterolemic Patients. T.-E. Kim.
688W Genotyping of New ADME Variants in a Phase 2 Axitinib Trial to Understand Exposure Variations. J. C. M. Marshall.
689T Profiling of miRNA expression in Immune thrombocytopenia patients before and after Qishunbaolier (QSBLE) treatment. B. Borjigin.
690W Rare variants in ALOX5 may be associated with the risk of hypersensitivity reaction to penicillin. R. Pellegrino.
691T Next generation sequencing technologies improve pharmacogenetic-guided drug dosing. I. Cohn.
692W Comprehensive exploration of the high-risk rare variants for the cold medicine–related Stevens-Johnson syndrome/ toxic epidermal necrolysis (CM-SJS/TEN) with severe ocular complications. Y. Hitomi.
693T Investigation of the role of rare variation in eighty-two pharmacogenes in the risk of vincristine-induced peripheral neuropathy in children. B. Almoguera.
694W Deep Sequencing of Genes Associated with Glucocorticoid Response in Asthma. Q. L. Duan.
695T Influence of common and rare genetic variation on warfarin dose among African Americans and European Americans using the exome-array. N. Liu.
696W Rescuing the un- sequenceable: Using exome sequencing and HRM to reliably and cost-effectively genotype non-trivial loci. M. D. Napier.
697T Novel genotyping algorithms for multiallelic and copy number ADME variants. J. P. Schmidt.
698W Variable read-through by small molecule drugs in Leber Congenital Amaurosis (LCA16) suggests need for personalized approach to read-through strategies. D. M. Pillers.
699T In silico analyses of complex systems for the development of novel therapeutics in rare and orphan diseases. K. Nguyen.
700W Variation in transcriptional response to Vitamin D and LPS in monocytes. S. N. Kariuki.
701T Association of gene polymorphism in detoxification enzymes and urinary 8-OHdG levels in traffic policemen exposed to vehicular exhaust in Telangana State. P.Reddy Penagaluru.
702W Molecular Modelling and Docking Analysis of katG and rpoB Genes in Clinical Isolates of Multi Drug Resistant Tuberculosis Patients from Sahariya Tribe of North Central India. R. Prakash.
703T Preliminary analysis of polymorphisms in the ABCB1 and ABCC1 genes associated to virological failure to antiretrovirals in a Mexican Mestizo population. F. F. González-Galarza.
Complex Traits and Polygenic Disorders
704W X-linked genes with novel rare variants identified by WGS in ASD patients are involved in neurodevelopment. V. Chini.
705T Inherited missense variation in Pfam protein domains contributes to autism risk. S. Fu.
706F Whole genome sequencing of pedigrees with a high burden of autoimmune disease. P. Bronson.
707W The exome sequencing identified the YARS2 mutation as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. M. Guan.
708T Exome analysis of rare and common variants within the NOD receptor pathway. G. Andreoletti.
709F Identification of novel disease-causing genes expands molecular genetic diagnosis of Osteogenesis Imperfecta. S. Fahiminiya.
710W Utility of VAAST in targeted case-control sequencing of candidate genes in childhood onset Crohn disease. J. Chen.
711T LONP1 is A Novel Gene for Congenital Diaphragmatic Hernia. L. Yu.
712F A Patient with Beaulieu-Boycott-Innes Syndrome, Illustrating the Utility of Whole Exome Sequencing. J. Amos.
713W Searching for rare variants involved in fulminant hepatitis B virus infection using exome sequencing. N. Chaturvedi.
714T Sharing of sequence variants in multiple genes within and across multiplex nonsyndromic cleft lip/palate families supports a multifactorial model. S. H. Blanton.
715F Whole genome sequencing in families to find new Alzheimer Disease genes: The analysis and current results from the Family Analysis Working Group of the Alzheimer's Disease Sequencing Project. E. Blue.
716W Common and Rare Exonic Variants Associated with Type 2 Diabetes in Han Chinese. G. Chen.
717T Genetics of normal cognitive and neurosensory variation in humans. E. T. Cirulli.
718F Rare variation association testing in inflammatory bowel disease, using low coverage whole genome sequences. K. M. de Lange.
719W Genetic epidemiology of ocular health and disease in the Jirel ethnic group of eastern Nepal: the Jiri Eye Study (JES). M. P. Johnson.
720T GRHL3 mutation screening identifies truncating mutations in patients with apparently nonsyndromic cleft palate. E. Mangold.
721F Quality Control (QC) and Multi-Pipeline Genotype Consensus Calling Strategies for 578 whole genomes and 10,692 whole exomes in the Alzheimer’s Disease Sequencing Project (ADSP). A. C. Naj.
722W Genome-wide analysis of stuttering susceptability. L. E. Petty.
723T Genome-wide rare variant association study of extreme phenotypes of emphysema. J. E. Radder.
724F Comparing genetic, proteomic and clinical profiles of discordant monozygotic twins. N. Vadgama.
725W Sequencing Analysis of Interferon Lambda loci In Individuals with Spontaneous Hepatitis C Virus Clearance and Persistence. C. Vergara.
726T Systematic screening of known associated genes confirms Congenital Hypogonadotropic Hypogonadism is characterized by oligogenicity. D. Cassatella.
727F Exome sequencing identifies SLC36A4 and SLC4A8 as novel genes influencing the distribution of HDL-cholesterol in West Africans and African Americans. A. R. Bentley.
728W Intraocular pressure and exome sequencing variation in the Beaver Dam Eye Study. F. Chen.
729T Whole-exome sequencing identifies mutations in SQSTM1 and VCP genes in a series of 205 inclusion body myositis cases. Q. Gang.
730F Identification of novel candidate genes in Primary Congenital Glaucoma by Whole Exome Sequencing. M. Kabra.
731W Understanding genetics of glucose and insulin dynamics in Mexican American individuals from Starr County, Texas. M. Karhade.
732T Whole-exome sequencing identifies novel candidate genes for early-onset Alzheimer disease. B. W. Kunkle.
733F Exome sequencing for identification of potential causal variants for diffuse cutaneous systemic sclerosis. A. C. Y. Mak.
734W Whole exome sequencing of probands from 158 idiopathic pulmonary fibrosis families identifies a telomere related gene network carrying potentially damaging mutations. R. Mitra.
735T Whole exome sequencing analysis of HIV-1 African American elite controllers. M. Montasser.
736F Identification of novel candidate genes for tuberculosis susceptibility by identifying disease-causing mutations in individuals with PIDs. M. Möller.
737W Exome sequencing reveals GNE, DYSF and CAPN3 as the major contributors of muscular dystrophy with potential roles of other genes in mediating disease progression. B. Nallamilli.
738T Exome sequencing analysis in a Primary Open Angle Glaucoma Brazilian Family. P. V. Svidnicki.
739F Exome sequencing in families affected with age-related macular degeneration identifies rare variants in Complement Factor H associated with extramacular drusen and lower serum factor H levels. E. Wagner.
740W Exome sequencing of a family–based cohort with polycystic ovary syndrome highlights variants in known and novel genes. S. G. Wilson.
741T Analysis of exome array markers with quantitative lung function measurements in the COPDGene study. M. M. Parker.
742F Exome chip meta-analysis identifies novel low-frequency variants contributing to central body fat distribution. K. L. Young.
743W Whole Exome Sequencing in Families with Chronic Lymphocytic Leukemia Detects a Mutation in ITGB2 (Integrin Beta 2) associated with Disease Susceptibility. L. R. Goldin.
744T Assessment of rare loss of function variants in previously healthy children with pediatric sepsis. A. Bittencourt Piccini.
745F Large-Scale Association Study of 4,898 Age-Related Macular Degeneration via Whole-Genome Sequencing. A. Kwong.
746W Targeted deep sequencing of 28 SLE risk loci reveal regulatory haplotypes that potentiate systemic autoimmunity in Caucasians. P. Raj.
747T Polymorphism of gene PNPLA3 in Brazilian patients infected with HCV with severe steatosis. P. Moura.
748F Whole Exome Sequence Meta-analysis of 13 White Blood Cell, Red Blood Cell, and Platelet Traits. L. M. Polfus.
749W Association of several genes and prostate cancer susceptibility using the Exome-Chip genotyping array. A. Amin Al Olama.
750T Rare variants in the functional domains of Complement Factor H are associated with age-related macular degeneration. E. D. O. Roberson.
751F Stop gain mutation in the ZNF528 gene co-segregates with familial early onset spinal-osteoporosis. S. Skarp.
752W The Helmsley Inflammatory Bowel Disease Exome Sequencing Program (HIESP) – Whole Exome Sequencing of 20,000 Samples. C. R. Stevens.
753T Identification of Polymorphisms Associated with Extrapulmonary Dissemination of Coccidioidomycosis (Valley Fever). M. Yourshaw.
754F Mutation in the chromatin-remodeling factor BAZ1A is associated with intellectual disability. A. Zaghlool.
755W Whole exome sequencing in a family with early onset primary angle-closure glaucoma. B. B. Souza.
756T Detection of somatic genetic variation at the LMNA locus in non-progeroid individuals. R. R. Palla.
757F Somatic mutation calling in lung tissue of ex-smokers with different degrees of airway obstruction. G.-A. Thun.
758W Genetics of Obesity and Diabetes Related Quantitative Traits in Omani Arabs. N. N. Al Kharusi.
759T Identification of Rare Variants in Schizophrenia Families. Z. Brkanac.
760F Whole-genome sequencing reveals schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome. M. Zarrei.
761W A whole exome study identifies novel candidate genes for vertebral bone marrow signal changes (Modic changes). M. Kraatari.
762T Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men. Y. Jiang.
763F Exome sequencing to detect rare variants associated with biliary atresia. O. Migita.
764W Rare variants in sporadic Hirschsprung disease patients. C. Tang.
765T Gene variants associated with spherical equivalent in the Beaver Dam Eye Study. K. E. Lee.
766F Testing the neuronal carnitine hypothesis for autism using whole exome sequencing in SSC families. D. Zhang.
767W Distinct genetic variants in the vitamin D pathway contribute to risk of multiple sclerosis and vary by presence of HLA-DRB1*15:01: Results from the Kaiser Permanente MS Research Program. A. Mok.
768T Fine-mapping major histocompatibility complex association in systemic lupus erythematosus identifies a novel association of HLA-DPB1 in three Asian populations. JE. Molineros.
769F Genetics of sarcoidosis determined by polygenic risk score analysis derived from CD4:CD8 ratio T-lymphocytes genetic variants. N.V. Rivera.
770W Focused HLA Analysis in Idiopathic Inflammatory Myopathy Identifies Significant Associations of Classical HLA Alleles with Autoantibody and Clinical Subgroups. S. Rothwell.
771T A cross-ethnic survey of CFB and SLC44A4, novel Indian ulcerative colitis GWAS hits, identifies allelic heterogeneity and underscores their potential role in disease biology. B. K. Thelma.
772F Epigenetic marks are strongly enriched in IBD fine-mapped variants. M. Umićević Mirkov.
773W Dissection of HLA class II in Japanese primary biliary cirrhosis: epistasis of protective HLA-DQ allele and additional contribution of HLA-DP allele. M. Yasunami.
774T Identifying autosomal variants that differ in frequency between males and females and implications for sex-based differences in disease. S. M. Raj.
775F Targeted sequencing of familial idiopathic scoliosis regions of interest on chromosomes 1, 6, 9 and 16. C. M. Justice.
776W Candidate gene polymorphisms as risk factors for primary knee osteoarthritis in Asian Indians.
. s. Poornima.
777T Identification of genetic variants in Wnt-1-induced secreted protein 1 gene associated with bone mineral density in Old Order Amish. X. Wang.
778F A regulatory variant in the dopamine β-hydroxylase (DBH) gene is associated with nicotine dependence, smoking cessation, and pulmonary function. D. B. Hancock.
779W Ultra-deep sequencing to identify somatic genetic variations in the brain in Alzheimer disease and during aging. H. T. Helgadottir.
780T Genetic Susceptibility for Asthma in Two Resource-Limited Settings in Peru. W. Checkley.
781F SLC2A9 sequence variants and serum uric acid concentrations in American Indians: The Strong Heart Family Study. G. Chittoor.
782W Association of long intergenic non-coding RNA SNP near MYLIP (6p23-p22) with Healthy Aging Index: The Long Life Family Study (LLFS). M. F. Feitosa.
783T Variation in kidney structure-related genes in African Americans with type 2 diabetes- associated end-stage kidney disease. M. Guan.
784F Rs738409 Polymorphism in PNPLA3 gene is associated with lower insulin resistance in Korean Men. J. Park.
785W Genetic Associations between Human Leukocyte Antigen-DQA1 Typing and Gallstone Disease in Han Chinese. H. Yang.
786T Genotyping the Nord-Trøndelag Health Study (HUNT) Cohort Using an Exome+GWAS Array with All Stop-gain Variants in 96 Genes. W. Zhou.
787F Coding variants in RREB1 are associated with type 2 diabetes and fasting glucose levels. H. Kitajima.
788W Identifying Candidate Genes Associated with Non-syndromic Orofacial Cleft Risk in Puerto Rican Hispanics. C. J. Buxó-Martínez.
789T Rare Variants in Previously Identified Linkage Region on Chromosome 7p Associated With Carotid Bifurcation Intima-Media Thickness in Dominican Families. N. D. Dueker.
790F Association of APOE E3/E4 With A Convex Facial Profile in Individuals diagnosed with Obstructive Sleep Apnea (OSA). J. K. Hartsfield.
791W Large-scale integrative fine-mapping over 22 complex traits with over 3.3 million phenotypic measurements. G. Kichaev.
792T Single nucleotide polymorphisms in the APCS gene influence geographic atrophy secondary to VEGF inhibition therapy in neovascular macular degeneration. G. J. McKay.
793F Identification of a p.Arg138Trp variant in TM6SF2 associated with triglyceride and total cholesterol levels in American Indians. A. Nair.
794W Mesocorticolimbic Genetic Variants are Associated with Scores on Opioid Risk Screening Tools. T. Onojighofia.
795T IBD associated SNP rs4256159 at chromosome 3p24 gene desert is correlated with increased colonic expression of SATB1. A. Onoufriadis.
796F Gender-specific association of ADIPOQ gene polymorphisms with adiponectin levels and the influence of genetic ancestry on the association with obesity in the Jackson Heart Study cohort. P. Riestra.
797W Fine-scale mapping of genomic heritability using summary association statistics. H. Shi.
798T Lack of Association Between Leptin T-2549G and Adiponectin C-11377G Genotype in Asthmatic-Obese Children. H. Verdi.
799F The impact of known type 2 diabetes associated variants on circulating levels of GLP-1, GIP and glucagon during an oral glucose tolerance test. A. Jonsson.
800W Assessing a genetic risk score for type 2 diabetes with abdominal obesity in a Korean population. J. Lee.
801T Genetic Variation in the Maltase-Glucoamylase Gene (MGAM) Associates with Measures of Body Mass Index in American Indian Adults and Children. Y. Muller.
802F Analysis of common variants in SLC19A2 identifies a modest association with type 2 diabetes in Pima Indians. M. Traurig.
803W The genetic and regulatory architecture of the ERBB3- type 1 diabetes susceptibility locus. S. Kaur.
804T Impact of APOL1 genetic variation on HIV-1 infection and opportunistic infections in African-American patients with HIV-1. P. An.
805F Immunochip analysis identifies amino acid residues in five separate HLA genes driving the association between the MHC and primary biliary cirrhosis. R. Darlay.
806W Identification and characterization of functional genetic variants in Dupuytren’s disease. J. Du.
807T Improved methods for multi-trait fine mapping of pleiotropic GWAS risk loci. M. Roytman.
808F Devising an imputation reference panel for fine-mapping regulatory variants in autoimmune diseases. H. Westra.
809W Genetic modifiers of age at onset of Alzheimer disease in PSEN1 mutation carrier families. J. H. Lee.
810T Genotype and phenotype diversity of Indian populations. A. Mishra.
811F Hypospadias and SRD5A2 gene: Haplotype frequency estimation and mutation in Iranian patients. M. Rahimi.
812W The association of HLA-DQA1 gene alleles frequencies and Kawasaki Diseases. H. Chi.
813T Fine-mapping analyses to identify additional variants influencing fasting metabolite concentrations. R. Li-Gao.
814F White matter tract laterality indices as endophenotypes to assess genetics of brain asymmetry. M. S. Naslavsky.
815W TPH2 variants are associated with metabolic syndrome and obesity. V. Causer.
816T Metabochip study of body composition measures in black South Africans reveals novel insights into obesity risk loci. Z. Lombard.
817F Association of rs6967330, a functional variant of CDHR3, with asthma exacerbation and rhinovirus infections in African Americans. M. March.
818W Tissue and sex-specific gene expression patterns during pubertal development. H. Hou.
819T Polymorphisms of genes involved in extracellular matrix homeostasis of tendons and the risk of rotator cuff tears. M. F. Leal.
820F HLA association analysis and haplotype analysis identify susceptible alleles of HLA class II to tuberculosis. L. Toyo-oka.
821W Survey of Rare and Common Genetic Variation in Putative Risk Loci for Primary Open-angle Glaucoma. R. P. Igo.
822T Variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration. E. Jorgenson.
823F Heterogeneity in expression of HLA class II genes provides evidence for unexpected functions of their products. E. Hesselberg.
824W Identification and functional analysis of chronic pancreatitis-associated deep intronic variants in the SPINK1 gene. WB. Zou.
825T Modeling Autism by Candidate Gene Editing in Human Induced Pluripotent Stem Cells. E. Deneault.
826F Prevalence of HLA-DQ alleles, PTPN22 gene functional variant R620W, and three autoantibodies in Kuwaiti Arab children with Type-1 Diabetes Mellitus. M. Z. Haider.
827W Revealing the functional effect that relates PTPN2 SNPs to rheumatoid arthritis. M. Houtman.
828T UncommonPGRN deletion and FTD responsible for phenotype variability in three familial cases. E. Vitale.
829F Role of endothelial nitric oxide synthase (eNOS) G894T polymorphism in ischemic stroke susceptibility: A case-control study in North Indian population. A. Kaur.
830W The type 1 diabetes susceptibility gene CLEC16A restrains NK cell function by modulating expression of NK receptors via C Vps-HOPS complex, CART and autophagy. R. Pandey.
831T Capture Hi-C reveals a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. G. Orozco.
832F The genetic architecture of human ear morphology. K. Adhikari.
833W Genetic variants associated with gene expression in the lung and asthma susceptibility. J. C. Berube.
834T Temporal Expression Profiling Identifies Pathways Mediating Effect of Causal Variant on Phenotype. S. Gupta.
835F Lung disease-associated SNPs and lung eQTLs in the major histocompatibility complex (MHC). M. Lamontagne.
836W Impact of common variation at diabetes locusMTNR1B on sleep, circadian, and melatonin physiology. J. M. Lane.
837T The role of conditional genetic effects in determining human longevity. S. Ukraintseva.
838F Integrative In-Silico Functional Characterization of Celiac Disease Susceptibility Variants. N. A. Shaik.
839W Examining the causal effect of Vitamin D on childhood caries: A Mendelian Randomization study. T. Dudding.
840T Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL cholesterol levels. A. D. Howard.
841F A functional regulatory variant associated with type 2 diabetes and fasting glucose levels at the ADCY5 locus. T. S. Roman.
842W Understanding the genetic involvement in Retinopathy of Prematurity by a functional genomics and protein profiling. I. Kaur.
843T A Lupus-associated variant in purine nucleoside phosphorylase (PNP) causes cell cycle abnormalities. Y. Ghodke-Puranik.
844F Deciphering the biological role of C1orf106, a susceptibility gene in inflammatory bowel disease. C. Levesque.
845W Characterising the causal mechanism at the 5q11 susceptibility locus associated with rheumatoid arthritis. K. McAllister.
846T To determine the biological role of GPR65, a gene associated to chronic inflammation. V. Mercier.
847F In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress. B. R. Anderson.
848W Association analysis of TNFα (-308G>A) polymorphism in Polycystic Ovary Syndrome cases. R. Kaur.
849T Regulatory variant alters expression of CRISPLD2, a nonsyndromic cleft lip and palate gene. L. Maili.
850F Identification of Genotype Driven Gene Expression Changes in Human Kidneys. Y. Ko.
851W A polymorphic transposable element regulates FADS1 expression. C. Wadelius.
852T Novel human DNA Identikit using SNVs in the Fluidigm Nano fluidic Dynamic Arrays. D. Bercovich.
853F Functional characterisation of the osteoarthritis susceptibility locus marked by the polymorphism rs10492367 at chromosome 12p11.22. K. Johnson.
854W Long-range modulation of PAG1 expression by 8q21 allergy risk variants. C. T. Vicente.
855T On the Prediction of Risk for Autism from Common Variants. L. Zhu.
856F Genomic variation in neuron-specific cell adhesion molecule "bar codes": candidate mechanims for disease and phenotype influences on the brain connectome. G. R. Uhl.
857W Genetic interaction analysis of reported longevity-associated epistatic effects in healthy oldest old Super-Seniors. L. C. Tindale.
858T Crispld2 plays a role in neural crest cell migration and cell viability during zebrafish craniofacial development. Q. Yuan.
859F Integrative analysis for identification of shared markers from various functional cells/tissues for rheumatoid arthritis. S. Lei.
860W Identification of Novel Metabolic Syndrome Loci by Combining Univariate GWAS Summary Statistics of Multiple Phenotypes. R. M. Salem.
861T Effect of RANK/RANKL/OPG gene polymorphisms on Left ventricular diastolic dysfunction in thalassemia major patients. M. M. Singh.
862F Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene. M. Rotunno.
863W Sequencing reveals novel, germline variants in BRIP1: an analysis of 1300 women diagnosed with breast cancer before age 40. C. Moyer.
864T Novel rare and common genetic variants associated with red blood cell traits identified in > 130,000 individuals genotyped on an exome array. N. Chami.
865F Heritability of Normal Human Facial Shape. J. B. Cole.
866W Genetic Sharing and Heritability of Pediatric Age of Onset Autoimmune Diseases. Y. R. Li.
867T Height-specific polygenic score using common alleles predicts extreme height rank. R. H. Miller.
868F Novel method to estimate regional genetic associations improves genetic scores performance. G. Pare.
869W Dissecting genetic and environmental contributors to asthma and allergy in two founder populations. M. Stein.
870T Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance. J. Esparza Gordillo.
871F A meta-analysis of atopic dermatitis reveals novel loci. L. Vazquez.
872W Chromatin regulatory circuitry defines inherited disease risk. O. Corradin.
873T The Inheritance of human lifespan in 20th Century Scotland. P. K. Joshi.
874F Genome-wide heritability estimates of sporadic brain arteriovenous malformations. H. Kim.
875W Defining endophenotypes of Age-related Macular Degeneration in the Amish. R. J. Sardell.
876T Missing heritability may be explained by the common household environment and its interaction with genetic variation. N. Wang.
877F Bayesian analysis of polygenic effects on BMI. J. H. Zhao.
878W Comparison of Predictive Value of Genetic and Transcriptional Risk Scores. U. Marigorta.
879T Identifying genes associated with maternal nondisjunction of chromosome 21. J. M. Chernus.
880F Genome-wide association study of 41 circulating cytokines. A. V. Ahola-Olli.
881W Analysis of pathways associated with Body Mass Index in individuals with multiple sclerosis. M. G. Durrant.
882T A comprehensive framework for fine-mapping disease loci across autoimmune diseases. A. Hadjixenofontos.
883F Genome-wide Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations. M. F. Seldin.
884W Multi-level Genome-wide Association Study on Bone Geometry and Microstructures. X. Fu.
885T Identification of 10 novel uterine leiomyomata susceptibility loci by genome-wide association analysis in population-based conventional and direct-to-consumer cohorts. C. S. Gallagher.
886F Polymorphisms in SLC6A3 and DBH genes of the dopaminergic pathway associated with resistance to M. tuberculosis infection. K. R. Fluegge.
887W UK BiLEVE: Novel loci and genetic architecture of FEV1 extremes in the first genetic study in UK Biobank. R. J. Allen.
888T The International Psoriasis Council Exome Chip Project: Exome arrays reveal known and novel coding variant associations. N. Dand.
889F A genome-wide association study of uterine fibroids confirmed by imaging in eMERGE. T. L. Edwards.
890W Clinical and genetic characteristics of novel emphysema distribution subtypes identified by unsupervised learning analysis. A. El Boueiz.
891T Y chromosome variation and complex traits: the Ygen consortium. I. Gandin.
892F Electronic health records empower the first genome wide association study of developmental dysplasia of the hip. K. Hatzikotoulas.
893W Assessing the Shared Genetic Basis of Benign Prostate Hyperplasia and Prostate Cancer; The Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. J. D. Hoffman.
894T GWAS of Urinary Metabolites within the Framingham Heart Study. J. E. Huffman.
895F Genome-wide association studies of upper airway microbial composition in a founder population. C. Igartua.
896W Identifying genetic associations with waist-to-hip ratio in Hispanic/Latino ancestral background groups: the HCHS/SOL Study. A. Justice.
897T Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. B. Kim.
898F Identification of four novel risk loci and functional causative elements in nonsyndromic cleft lip with or without cleft palate. K. U. Ludwig.
899W Copy number variation in FCGBP gene is associated with endometriosis development. F. A. Mafra.
900T Exome array-based genome-wide association study of fasting glucose level in Korean population. S. Moon.
901F Replication study of whole genome association for caries in a Guatemalan population. N. Mukhopadhyay.
902W Identification of three additional susceptibility loci for ulcerative colitis through an Immunochip analysis in Koreans. H. Oh.
903T Investigation of genetic risk factors of very low birth weight infants within the German Neonatal Network. M. Preuss.
904F Novel genetic loci and Alzheimer’s disease genes influence retinal nerve fibre layer thinning: an European ancestry meta-analysis of 10,502 individuals. C. Venturini.
905W Discovery of genetic associations underlying metabolically healthy obesity (MHO) and metabolically obese normal-weight (MONW). N. Y. Yang.
906T Reanalysis of 15 Genome-wide Association Data Sets Revealed Novel Inflammatory Bowel Disease Loci. Y. Zhang.
907F Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. M. Bakay.
908W Burden Analysis of Copy Number Variation in Gallstone Disease. E. E. Perez-Palma.
909T The Contribution of Glycemic and Non-Glycemic Genetic Variants Identified Through a Trans-Ethnic Discovery Meta-Analysis of A1c to Type 2 Diabetes Prediction and Reclassification. E. Wheeler.
910F Genome-wide association study for Gallstone disease in Latin Chilean population. B. I. Bustos.
911W AS3MT, Other Genes and Arsenic Metabolism Biomarkers in American Indians: the Strong Heart Family Study. P. Balakrishnan.
912T Mega-analysis versus Meta-Analysis: On the gain of jointly imputing and analyzing 33,976 subjects compared to meta-analyzing study-specific aggregated genome-wide association statistics on the example of Age-related Macular Degeneration. M. M. Gorski.
913F Epigenetic susceptibility and novel biomarkers for severe influenza A virus infection. A. Wenneström.
914W Functional linear models extensions uncover pleiotropic effects of chronic pain phenotypes. D. V. Zaykin.
915T A trans-ethnic meta-analysis of genome wide association studies reveals new loci associated with childhood obesity. J. P. Bradfield.
916F Genome-wide association study identifies EFEMP1 as a new candidate biliary atresia susceptibility gene. Y. Chen.
917W A genome-wide investigation of food addiction. M. C. Cornelis.
918T Novel rare and low frequency variants associated with lipoprotein subclasses and triglyceride measures. J. P. Davis.
919F Genome-Wide Meta-Analysis on the Sense of Smell among US Older Adults. J. Dong.
920W Genome-wide association analysis for chronic vein insufficiency identifies two genes as the first susceptibility loci. D. Ellinghaus.
921T Trans-ethnic GWAS of pelvic organ prolapse among European American, African American and Hispanic post-menopausal women from the Women’s Health Initiative. A. Giri.
922F Genomewide Association of Polycystic Ovary Syndrome Implicates Alterations in Gonadotropin Secretion in European Ancestry Populations. M. Hayes.
923W The Netherlands Twin Register Axiom Biobank platform for GWAS. J. Hottenga.
924T Discoveries from platelet count genome-wide association study in the Hispanic Community Health Study: Study Of Latinos (HCHS/SOL). D. Jain.
925F Genome-Wide Association Study of HIV-Associated Neurocognitive Disorder (HAND): a CHARTER Group Study. P. Jia.
926W Genome-wide meta-analysis of histological phenotypes provides insights into the genetic architecture of human skeletal muscle. T. Karaderi.
927T Genome-wide association study of spontaneous preterm birth. M. Karjalainen.
928F Uncovering novel genes contributing to phenotypic heterogeneity in a common birth defect. E. J. Leslie.
929W Genome-wide association study of acute otitis media in children. J. Li.
930T Findings from the Initial Phase of the GSCAN Exome Chip Project. M. Liu.
931F A cis-eQTL near the ZNF682 gene is associated with risk for diabetic nephropathy in Pima Indians. I. Masindova.
932W Genome-wide association study of clinically-defined gout identifies multiple risk loci: a clue for future companion diagnostics of gout. H. Matsuo.
933T Genome-wide meta-analysis of polycystic ovary syndrome in women of European ancestry identifies new loci in hormone pathways. C. Meun.
934F A common polymorphism in HIBCH is a cobalamin-independent determinant of methylmalonic acid concentrations in blood. F. Pangilinan.
935W Genome-wide association study to identify variants predisposing to severe bronchiolitis. A. M. S. Pasanen.
936T A genome-wide association study using a custom genotyping array identifies variant in GPR158 associated with reduced energy expenditure and increased body mass index in American Indians. P. Piaggi.
937F Genetic variants assocaiated with facial shape across continents. L. Qiao.
938W Genome-wide association study of complication of diabetes mellitus (DM) in Korean populations. S.Y. Rhee.
939T Genome-wide association studies of vitiligo implicate 100 loci in disease risk. S. Santorico.
940F Common Variants in PTGES Associated with Asthma Susceptibility in African Americans. P. Sleiman.
941W Genome-wide association study of urinary electrolytes-adjusted blood pressure. B. Tayo.
942T A scalable Bayesian method for integrating functional SNP annotations in genome-wide association studies. J. Yang.
943F GWAS of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian Diabetic Heart Study. B. R. Sapkota.
944W A Genome-Wide Association Study of Multi-Comorbidities: Towards a Genomic-Decision Aid for Health and Wellness Forecasting. K. Shameer.
945T Meta-analysis of exome chip variants identifies common and rare variant associations for white blood cell counts in more than 132,000 participants. U. Schick.
946F Genome-wide interaction with insulin secretion risk score reveals novel loci contributing to type 2 diabetes etiology in African Americans. J. M. Keaton.
947W Amino acid variation in HLA class II proteins is a major determinant of humoral response to common viruses. C. Hammer.
948T Integrative analysis of a GWAS for amino acids and acylcarnitines in whole blood and gene-expression data identifies six novel loci and reveals insight into regulatory mechanisms. M. Scholz.
949F Genetic association in narcolepsy suggests autoimmune origin. H.M. Ollila.
950W Preliminary Genetic Association Analysis of Obstructive Sleep Apnea (OSA) and Obesity in Patients from Colombia. L. A. Morford.
951T Phenome Wide Association Study of Human MHC Region in Marshfield Clinic PMRP. J. Liu.
952F Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS. Q. Wang.
953W Common susceptibility variants are shared between schizophrenia and psoriasis in the Han Chinese population. XY. Yin.
954T Meta-analysis of exome array data identifies two novel regions associated with lung function. V. E. Jackson.
955F Genome-wide association analysis of a custom Pima Indian genotyping array identifies a female specific effect of common variation near TH/MIR4686 on risk for type 2 diabetes and reduced insulin secretion. L. Baier.
956W Analysis of sex-by-SNP interaction among geographically distinct cohorts reveals novel suggestive loci for IgA nephropathy. N. Mladkova.
957T Do myopia genes vary with age? J. W. L. Tideman.
958F Common genetic variants associated with thyroid function may be risk alleles for Hashimoto's disease and Graves' disease. P. Campbell.
959W DQA1 gene and type 1 diabetes. Y. Lee.
960T Estrogen receptor alpha gene (ESR1) variant is associated with specific clinical features of systemic lupus erythematosus patients in a Brazilian population. S. E. Lofgren.
961F Association of WNT pathway gene polymorphisms with nonsyndromic oligodontia. N. Dinckan.
962W Meta-analysis of genome-wide imputed GWAS confirms known significant loci and identifies new suggestive loci in patients with Dupuytren´s disease. K. Becker.
963T Association of PLEKHA7, COL11A1, ST18 -PCMTD1 and ABCC5 Polymorphisms with primary angle-closure glaucoma. J. Chen.
964F Polymorphisms in Macrophage Migration Inhibitory Factor (MIF) And Disposition To Biliary Atresia Among Children. K. Sadek.
965W Interactive analyses of INS (rs689), INSR (rs1799816) and PPP1R3A (rs1799999) polymorphisms with Type 2 Diabetes risk in Brahmin group of North-West India. A. Bhanwer.
966T Genetic Risk Score Based on Type 2 Diabetes Variants Predicts Longitudinal Decline in β-cell Function in Mexican Americans at Risk for Type 2 Diabetes. M. Black.
967F Interaction Analysis of CAPN10 and PGC-1α Genes with Type 2 Diabetes in Three Unrelated Endogamous Groups of North-West India (Punjab): A Case-Control and Meta-Analysis Study. R. Sharma.
968W The mechanism of cleft palate after palatal fusion. S. Suzuki.
969T An investigation of toll-like receptors in tuberculosis susceptibility reveals sex-specific associations for TLR8 polymorphisms. M. Salie.
970F Genetic associations with non-fasting metabolite concentrations. D. O. Mook-Kanamori.
971W Rare genomic variants in PARD3 are potential risk factors for human cranial neural tube defec. X. Chen.
972T Replication of GWAS findings for cleft lip/palate in a Han Chinese population. Z. Jia.
973F Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patient. Q. Jiang.
974W Targeted next generation sequencing identifies genetic regions influencing the development of chronic obstructive pulmonary disorder in a population from northern Sweden. J. Klar.
975T Genetic variant near PLXDC2 gene influences the risk of primary open-angle glaucoma by increasing intraocular pressure. F. Mabuchi.
976F Gene-hormone therapy interaction and fracture risk in postmenopausal women. Y. Wang.
977W Exploring interactions between genetic variation under linkage peaks and cigarette smoking on body weight in families. K. L. Edwards.
978T Genome-wide analysis of gene interactions with an environmental risk score for colorectal cancer risk. M. Du.
979F Interaction between variants in CLU and MS4A4E modulates Alzheimer’s disease risk. M. Ebbert.
980W A Genome-Wide Gene-Environment Interaction Study on Dyslipidemia between Genes and Obesity Traits. M. Kang.
981T Interaction between genotypes at OPRM1 and CHRNA5 and an adolescent substance prevention intervention on smoking during high school. D. J. Vandenbergh.
982F Genome-wide gene by disease interaction analysis identifies common SNPs at 17q21.2 that are associated with increased body mass index only among asthmatics. L. Wang.
983W Metabolites of the one-carbon metabolism and the beneficial effects of the gene-Mediterranean diet interaction. A. Hadjisavvas.
984T African ancestry is associated with intraocular pressure in Latinos. X. Gao.
985F Reproductive Performance and PON1 L55M Gene Polymorphism in Women Occupationally Exposed to Organophosphate Pesticides. M. Hema Prasad.
986W Obesity-mediated eQTLs identify sex-hormone effects in obese Finnish men. A. Ko.
987T Evidence for a causal association between obesity and multiple sclerosis through direct and indirect pathways: Results from the Kaiser Permanente MS Research Program. L. F. Barcellos.
988F Identification of novel candidate genes and pathways for Parkinson Disease through gene-based association tests of rare sequence variants. K. Nuytemans.
989W Mitochondria haplogroup analysis in primary open angle glaucoma suggests an association with haplogroup T2. J. L. Wiggs.
990T Cytochrome P450 and Matrix Metalloproteinase Genetic Modifiers of Disease Severity in Cerebral Cavernous Malformation Type 1. H. Choquet.
991F Identification of NSCL/P candidate genes following knockdown of crispld2. B. Chiquet.
992W SNPs, Linkage Disequilibrium and Transcriptional Factor Binding Sites Associated with Acute Mountain Sickness among Han Chinese at the Qinghai-Tibetan Plateau. N. Buroker.
993T Neural tube defect candidate genes are associated with a fumonisin B1 biomarker among at-risk Guatemalan women. M. Garrett.
994F Regulatory annotations implicate thousands of independent disease-associated variants. A. K. Sarkar.
995W Cholesterol transport and beta-amyloid regulation polygenic risk scores as predictors of beta-amyloid levels in a sample at increased risk for Alzheimer’s disease. B. F. Darst.
996T Genome-wide gene-set analysis identifies different patterns of genetic sharing across complex phenotypes. H. Gui.
997F Integrated molecular phenotyping in chondrocytes identifies genes and pathways disrupted in osteoarthritis. J. Steinberg.
998W Identification of disease-specific eQTLs in asthma and COPD cases but not healthy controls. D. C. Croteau-Chonka.
999T A cell type specific gene expression signature of Alzheimer's disease pathogenesis from meta-analysis of publically available microarray data. J. Chen.
1000F Promoter polymorphisms in Wnt signaling pathway are associated with tuberculosis risk in Chinese subjects. X. Hu.
1001W Mining Longitudinal BMI, as a Cachexia Proxy, for Common Genetic Determinants among COPD and Cancer Cases in the Framingham Heart Study. M.-L. N. McDonald.
1002T Novel pathways identified from blood-based transcriptomic profiling of kidney function and chronic kidney disease in the Framingham Heart Study. A. Y. Chu.
1003F Whole exome sequencing of very early-onset inflammatory bowel disease shows both family-based and case/control associations with CCDC40 and MAPK12. C. J. Cardinale.
1004W Mutational burden in candidate genes for Chiari Type I Malformation is associated with the co-occurrence of connective tissue disorders. K. Soldano.
1005T Identifying genetic variants underlying self-reported composing and arranging. J. Oikkonen.
1006F Combined Linkage and Association Analyses Identify ANGPT2 Associated with Nocturnal Oxygen Saturation. H. Wang.
1007W Association of asthma with innate immune genetic variants and interactions with early life viral infections. L. Akhabir.
1008T Whole genome linkage study for caries risk in Guatemalans identifies novel genetic regions. M. Govil.
1009F Child’s HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus (SLE): results from the Mother-Child Immunogenetic Study in Autoimmunity (MCIS). G. I. Cruz.
1010W Gene-based analysis in a family-based sample using Generalized Least Square(GLS) approach identified novel IBD locus supported by strong eQTL evidence. D. Li.
1011T Analysis of Comorbidities of Multiple Sclerosis Patients using an Electronic Medical Record-linked DNA Biobank. S. Frodsham.
1012F The Role of Mendelian Genes in Complex Disease Risk. K. P. Shah.
1013W Study of the genetic architecture of diabetic retinopathy in African Americans from a de-identified medical records system. N. Restrepo.
1014T Bioinformatics Infrastructure for the Partners Biobank Initiative. E. A. Tsai.
1015F Possibilities in Unbiased Population Based Research Using Neonatal Screening Biobanks. J. Grauholm.
1016W Correlation Between Genetic Ancestry Proportions and Thousands of Common Disease States in Admixed Populations. J. Jeff.
1017T Discovery of disease-specific eQTLs aids interpretation of GWAS results in systemic lupus erythematosus. A. Wuster.
1018F Enhanced methods for gene expression imputation from genetic variation data. N. Mancuso.
1019W Metabolomic profiles during an oral glucose challenge in 470 non-diabetic community residents: Associations with clamp-evaluated insulin sensitivity. C. Nowak.
1020T Assessing the Genetic Predisposition of Education on Myopia: a Mendelian Randomization Study. G. Cuellar-Partdia.
1021F Bone marrow mesenchymal stem cell molecular signatures in multiple sclerosis. F. B. S. Briggs.
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1022W A recurrent missense mutation in CACNA1G/Cav3.1 S4 segment alters channel activity in autosomal dominant cerebellar ataxia. M. Coutelier.
1023T Identification of candidate genes for IQ discrepancy in extended families with autism using whole exome sequencing data. A. Q. Nato.
1024F Language impairment in autism spectrum disorder: a sensitive indicator of functioning in genomic copy number changes? C. W. Bartlett.
1025W Two microdeletions that segregate independently in a family, suggesting three candidate genes for autism and motor delay at 12q12 and two candidate genes for cerebral palsy at Xp22.13. J.D.J. Labonne.
1026T Integrative Analysis of Human Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders. J. Li.
1027F Effect of Vitamin D supplementation on NFE2L2 or Nrf2 gene expression in multiple sclerosis patients. R. Amirinejad.
1028W Association analysis of rs823144 polymorphism of RAB7L1 gene in Parkinson’s disease in Iranian population. B. Emamalizadeh.
1029T Mapping Genes using a Hidden Markov Model for Bipolar Affective Disorder in Consanguineous Families. R. S. Harripaul.
1030F Analysis of rs1572931 polymorphism of RAB7L1 gene in Parkinson’s disease in Iranian patients. A. Khaligh.
1031W Small CNVs in Major Depressive Disorder. DL. Nuñez Ríos.
1032T A novel neurogenetic disorder with STARD9 mutation. N. Okamoto.
1033F Copy Number Change (CNC) in chromosomal region 3p26.3, is consistently associated with the ADHD phenotype in a large sibship. N. Kapalanga.
1034W Missense mutations in GPT2 are associated with autosomal recessive nonsyndromic intellectual disability. T. Lobo-Prada.
1035T Effects of DCDC2 and KIAA0319 in a case-control sample for reading disability in African American and Hispanic American children. D. T. Truong.
1036F Genetic susceptibility loci for late-onset Alzheimer’s disease and the prevalence of subjective memory loss in healthy, older adults. D. A. Carere.
1037W Aging-related miRNAs are associated with schizophrenia and verbal memory impairment. E. Quillen.
1038T Neurodevelopmental Copy Number Variants and Clinical Risk: a Pediatric Medical Record Population Study. K. Ahn.
1039F Using a tiered cross-disorder approach to identify and confirm candidate genes for brain disorders. A. Gonzalez-Mantilla.
1040W Association analysis of polymorphisms in the dopaminergic pathway and cognitive measures in the Diabetes Heart Study. S. E. Martelle.
1041T Epigenetics of serotonin 1B receptor: analysis of suicidal behavior in mood disorder and schizophrenia. A. Bani-Fatemi.
1042F Exploration of a multiplex family with synesthesia and autism using whole genome sequencing. A. Mathieu.
1043W Targeted neurogenesis pathway-based gene analysis identifies ADORA2A associated with hippocampal volume in mild cognitive impairment and Alzheimer's disease. E. Horgusluoglu.
1044T Don't lose the forest for the trees: New insights into juvenile psychosis from chromosomal microarrays. C. A. Brownstein.
1045F Genetic Association Study Suggests FOXA1 Could Be a Common Regulator of Epilepsy Electroencephalogram Endophenotype and Reading Disability Comorbidity. N. Panjwani.
1046W Exome sequencing in a cohort of patients with microcephaly and related conditions: Identification of known and novel disease genes and the lessons learned. A. T. Pagnamenta.
1047T Gene-gene interaction analysis of mitochondria-related genes in the risk of Parkinson’s disease and Alzheimer’s disease. S. J. Chung.
1048F Deletion in ABCA7 associated with Alzheimer’s disease in African Americans. H. N. Cukier.
1049W Towards the identification of new genes in recessive Parkinson’s disease. V. Drouet.
1050T Molecular study of PMP22 gene duplication by MLPA and point mutations of MPZ and MFN2 genes in Charcot–Marie –Tooth patients in northwest of Iran. P. Aob.
1051F A LRRK2 haplotype provides protection for Korean multiple system atrophy. E. Scott.
1052W Parkinson’s disease and genetic variability in a French Canadian isolate. L. Sellmer.
1053T Association between serotonin transporter VNTR and depression at 12 months post aneurysmal subarachnoid hemorrhage. A. Stanfill.
1054F Childhood Maltreatment Associates with Long Non-Coding RNAs Differentially Expressed in the Rostral Anterior Cingulate Cortex. Y. Zhou.
1055W Follow-up of the SNP rs1156026 association with schizophrenia in a Quebec sample reveals a complex interplay with DNAJC15 deletions in predicting schizophrenia and bipolar disorder. A. Bureau.
1056T Genetic and functional analysis of neurodevelopmental genes associated with schizophrenia in Indian population. A. Jajodia.
1057F Follow-up of linkage signals in the Quebec Kindred sample of schizophrenia and bipolar disorder using RNA expression and large scale SNVs analysis reveals potential candidate genes. Y. Chagnon.
1058W Next-generation profiling to identify the molecular etiology of Parkinson's dementia. A. Henderson-Smith.
1059T Quantitative trait loci analysis of the serotonin-NAS-melatonin pathway in Autism Spectrum Disorders. M. Benabou.
1060F Function-based GWAS identifies novel candidate genes in autism spectrum disorder. L. K. Davis.
1061W Linkage analysis revisited: three regions of potential risk found in extended multiplex Autism Spectrum Disorder (ASD) families. s. luzi.
1062T The burden of Multiple Sclerosis variants in continental Italians and Sardinians. S. Sanna.
1063F Identification of pleiotropic loci involved in the comorbidity of addiction with major depression and anxiety using randomly ascertained extended pedigrees. K. Hodgson.
1064W Genome-wide association study for facet-level traits of neuroticism in a health study cohort of Korean adults. S. Kim.
1065T Genetic loci in periodic hypersomnia/Kleine-Levin syndrome type. E. Mignot.
1066F An international, collaborative genome-wide association study of Tourette Syndrome in 13,000 individuals identifies a non-coding RNA expressed early in human brain development as a TS susceptibility gene. J. M. Scharf.
1067W ADHD risk loci identified by genome-wide association meta-analysis. D. Demontis.
1068T A novel oligogenetic framework identifies age of onset modifying mutations in Alzheimer’s disease. J. I. Vélez.
1069F Genome wide association in families identifieds a genetic basis for two components of speech, phonological processing and articulation. H. Voss-Hoynes.
1070W Genome-wide linkage and family-based association in the Western Australian Family Study of Schizophrenia (WAFSS). N. S. McCarthy.
1071T UK BiLEVE, the first genetic study in UK Biobank, identifies 5 novel regions associated with smoking behaviour. M. D. Tobin.
1072F Investigation into the Genetics Underlying Receptive Vocabulary Processing. A. K. Adams.
1073W Cross disorder analyses in attention deficit hyperactivity disorder and autism spectrum disorder: An update. M. Mattheisen.
1074T A polymorphism in CRAT is associated with HLA-DQB1*06:02 negative essential hypersomnia. T. Miyagawa.
1075F Search for new susceptibility genetic factor associated with panic disorder-pathway analyses based on genome-wide association study. M. Shimada-Sugimoto.
1076W Genome-Wide Association Study Implicates Protein Kinase N2 as a Risk Factor in Persistent Drug Abuse in Intravenous Drug Users. SC. Wang.
1077T Genetic risk variants converge in NMDAR interactome underlying schizophrenia. Z. Wei.
1078F Population-level identity-by-descent haplotype sharing provides insight into demographic history and autism spectrum disorder. A. R. Martin.
1079W Cross-disorder analysis of 23 brain diseases and 200,000 patients using shared heritability methods reveals novel patterns in the genetic susceptibility to brain diseases. V. Anttila.
1080T Genome-wide parametric multipoint linkage analyses of extended Alzheimer’s disease (AD) families identifies a Chromosome 1 risk locus for familial late-onset AD. J. Jaworski.
1081F Identification of chromosomal regions interacting with susceptibility loci for Alzheimer’s disease. M. Kikuchi.
1082W A variant in Sarcolemma Associated Protein (SLMAP) achieves genome-wide significance in African Americans with Alzheimer’s disease using informed conditioning on clinical covariates. J. Mez.
1083T Novel risk variants and the genetic architecture of amyotrophic lateral sclerosis. W. van Rheenen.
1084F Variants in CNTN5 Associated with ADHD Susceptibility: A Meta-Analysis of Two Pediatric Cohorts. J. J. Connolly.
1085W Identifying Genetic Modifiers of an Inherited Peripheral Neuropathy in a GWAS Design. F. Tao.
1086T Investigating the Genetic Architecture of Major Depression and Body Mass Index in 10649 Han Chinese Women using Sparse Whole Genome Sequencing and Molecular Signatures of Stress. R. Peterson.
1087F Sparse whole genome sequencing identifies two loci for major depressive disorder. T. B. Bigdeli.
1088W Cross-Disorder Genome-Wide Analyses and Genetic Relationship between ASD and OCD. W. Guo.
1089T Identification of novel genetic variants of DSM-5 alcohol use disorder: Exome Array analyses in NESARC-III. J. Jung.
1090F Genome-wide Linkage on Chromosome 10q26 for a Dimensional Scale of Major Depression. E. E. M. Knowles.
1091W Bivariate linkage and association for recurrent major depression and right hippocampal volume. S. R. Mathias.
1092T Genome-Wide Association Study of Smoking Quantity in American Populations: Identification of Novel Risk Loci in Both African- and European-Americans. J. L. Montalvo-Ortiz.
1093F Genetics of depression across adolescence. H. M. Sallis.
1094W Schizophrenia Polygenic Risk Score is Strongly Associated with Bipolar 1 Disorder in a Multi-ethnic Sample. C. Schaefer.
1095T Genetics of Alcohol Drinking Behaviors for Koreans: a Population with one third of Slow Metabolizers. S. Son.
1096F Genome-wide meta-analyses identify copy number variation associated with alcohol dependence in African and European populations. A. Sulovari.
1097W Cooperativeness Character Domain of Temperament and Character Inventory (TCI) is Associated with 15q26.3 region in General Korean Population. S. Yang.
1098T Exome-wide rare variant analyses reveal NT5DC1 gene as a new candidate gene for adult ADHD. T. Zayats.
1099F RNA-sequencing identifies differentially expressed novel gene isoforms in bipolar disorder. N. Akula.
1100W A search for novel causative genes for autosomal recessive hereditary spastic paraplegia based on exome sequencing of singletons from individual families. H. Ishiura.
1101T Characterization of the transcriptome of vestibular dysfunction associated with SLC26A4 mutations. Y. H. Chan.
1102F The genetic architecture of Autism Spectrum Disorders in the Faroe Islands. C. Carton.
1103W Whole exome sequencing of parent-proband trios to identify genes implicated in hyperserotonemia and autism spectrum disorder. R. Chen.
1104T Assessing the impact of inherited and de novo CNVs in Autism Spectrum Disorder in high-risk infant siblings using high-resolution microarrays. L. D'Abate.
1105F Identification of de novo and rare inherited mutations in autism spectrum disorder by whole genome sequencing. H. El-Shanti.
1106W No Evidence That Differences In Cortical DNA Methylation Contribute to Autism. S. Ellis.
1107T Distinct biomolecular modules group and distinguish autism genes. F. Hormozdiari.
1108F Utilizing whole-exome sequencing in a multiplex family with autism spectrum disorder. E. Koparir.
1109W One in three de novo variants seen in Autism Spectrum Disorder probands are present as standing variation in a cohort of more than 60,000 non-ASD individuals. J. A. Kosmicki.
1110T Investigating Somatic Mosaicism in Simplex Autism Spectrum Disorder. D. Krupp.
1111F CNV Burden in ASD and its Association with Developmental and Behavioral Impairment. J. M. Lee.
1112W Genetic analysis for circadian rhythm abnormality in autism spectrum disorder. A. Matsumoto.
1113T Rare loss-of-function mutations in ASD individuals. D. P. Moreira.
1114F Mitochondrial Variants in Autism Spectrum Disorder through off target exome read analysis. A. Patowary.
1115W A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder. S. Raskin.
1116T Autism gene discovery in rare female-enriched multiplex families (FEMFs). J. M. Tilghman.
1117F Whole exome sequencing in autism spectrum disorder: confirmation of ASD-risk genes and identification of new candidates. J. Van-Gils.
1118W A case of Autism Spectrum Disorder with a novel SRCAP mutation. S. Walker.
1119T Identification of rare disruptive variants in voltage-gated channel genes (CACNA1C, CACNA1D, CACNA1S, CACNA1I) in Japanese samples of schizophrenia and autism spectrum disorder using Ion Torrent PGM platform. C. Wang.
1120F Rare bi-allelic mutations in autism spectrum disorder illuminate gender differences and highlight novel genes. T. W. Yu.
1121W Genome-wide de novo mutation landscape in Autism Spectrum Disorder. R. K. C. Yuen.
1122T The Alzheimer’s Disease Sequencing Project (ADSP) Discovery Phase: Data Production, Management, and Availability. A. B. Partch.
1123F Identification of candidate genes in familial early-onset essential tremor: whole exome sequencing study. L. Clark.
1124W Rare susceptibility variants for familial bipolar disorder: a role for G protein-coupled receptors. C. Cruceanu.
1125T Exome sequencing in multiplex synaesthesia families identifies rare coding variants in genes within candidate linkage regions. K. S. Kucera.
1126F PCDH19-related Epileptic Encephalopathy: An unusual case of an affected male with mosaic de novo truncating variant in PCDH19 gene. I. Thiffault.
1127W Young Northern Finnish founder population reveals enrichment of rare recessive and dominant gene variants in neurodevelopmental disorders. M. I. Kurki.
1128T Exome and genome sequencing in Irish multiplex schizophrenia families. B. P. Riley.
1129F The Diverse Landscape of Structural Variation Contributing to Autism. R. L. Collins.
1130W Structural variation in 111 families at risk for Alzheimer’s disease from heterogenous whole-genome sequencing data. N. Zhang.
1131T Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. R. D. Bagnall.
1132F LGI2 heterozygous variant identified in a Japanese family with autosomal dominant cryptogenic West syndrome. N. Ishihara.
1133W Evaluation of variants from epilepsy patients referred for genetic screening. K. A. McCarty.
1134T Identification of non-coding RNAs related to familial mesial temporal lobe epilepsy by whole exome sequencing and Sanger validation. R. Secolin.
1135F SORL1 mutations and Parkinsonian features in early onset Alzheimer’s disease families. M. L. Cuccaro.
1136W Analysis of linkage and whole exome sequencing to identify novel alcohol dependence-associated variants in extended European and African American families. M. Kapoor.
1137T Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. A. Kikuchi.
1138F Identification of rare variants associated with age-related macular degeneration by whole exome sequencing in 41 extended families. R. Priya.
1139W Aggregated analysis of developmental disorders reveals novel risk genes and improves genetic diagnosis. K. Retterer.
1140T Identification of a Nonsense Mutation in PIDD in Pakistani Families with Non-Syndromic Autosomal Recessive Intellectual Disability Using Exome Sequencing. J. B. Vincent.
1141F Whole genome sequencing of autism spectrum disorder extended families reveals risk genes and variants missed by exome sequencing. A. J. Griswold.
1142W Comprehensive genomic analysis and quantitative functional assays in model systems provides evidence for the “two-hit” model in genomic disorders. L. Pizzo.
1143T Meta-analysis of rare exome chip variants in 12,493 individuals identifies novel genes for white matter hyperintensities. X. Jian.
1144F Allelic diversity of human disease genes in a large multigenerational Old Order Amish pedigree. R. L. Kember.
1145W Combining autism and intellectual disability exome data yields insight into both disorders. K. Roeder.
1146T Mitochondrial genome sequence variation, mutation accumulation, heteroplasmy, and haplogroups associated with Alzheimer's Disease. X. Wang.
1147F Using zebrafish to model the role of GEMIN5 in neurological disease. K. Schaffer.
1148W Mutation analysis of the WNT7A and interaction study with the DISC1 in schizophrenia. M. Cheng.
1149T The Alzheimer’s Disease Sequencing Project Discovery Phase: Case-Control Study Design, Progress, and Preliminary Results. J. C. Bis.
1150F Novel ABCC1 variant associated with frontotemporal dementia. M. De Both.
1151W Rare Loss of Function Variants from Immune System Genes and Brain Over-expressed Genes are Enriched in Alzheimer’s Disease Patients Compared to Centenarians. Y. Freudenberg-Hua.
1152T Exome sequencing identifies novel genes associated with Multiple System Atrophy. A. Siniard.
1153F Rare coding mutations identified by sequencing of Alzheimer’s disease GWAS loci. B. N. Vardarajan.
1154W The percentage of sporadic amyotrophic lateral sclerosis patients with a known genetic etiology of disease is less than previously described. J. M. Downie.
1155T Identification of SPG11/KIAA1840 mutations in patients with autosomal recessive axonal Charcot-Marie-Tooth disease. L. Pedace.
1156F Uniparental disomy causing hereditary spastic paraplegia: Paternal disomy in FA2H causing homozygous SPG35 in two non-consanguine families. A. S. Soehn.
1157W A study on the Association of monoamine and glutamate gene polymorphisms with alcohol dependence in patients from North India. R. Gupta.
1158T Identification of ADHD candidate genes in large pedigrees combining linkage analysis and whole-exome sequencing. J. Corominas-Galbany.
1159F Novel L1 retrotransposon discovery in schizophrenia exomes. C. E. Krebs.
1160W Exome Sequencing Points to Roles of De Novo and Rare Transmitted Mutations in Bipolar Disorder. N. Matoba.
1161T CNTN6 mutations are risk factors for abnormal neurite outgrowth and autism spectrum disorders. O. Mercati.
1162F Identification of five obsessive-compulsive disorder genes utilizing animal models, evolutionary constraints and regulatory information. H. Noh.
1163W Exome Sequencing in Multiplex Families with Bipolar Disorder Reveals Circadian Signaling Pathways. S. Ramdas.
1164T Unique Psychiatric and Non-Psychiatric Phenotypic Characterizations in relation to Copy Number Variants (CNVs) in a Schizophrenia Cohort. V. Sriretnakumar.
1165F Using exome sequencing to identify rare, de novo mutations in Tourette Syndrome families. D. Yu.
1166W Novel gene identification in familial Alzheimer’s disease. J. Rehker.
1167T Mutations in PTRH2 cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). C. Hu.
1168F Modeling the association between loss-of-function GBA1 mutations and synucleinopathies with in vivo mouse models. N. Tayebi.
1169W Transcriptomic analysis reveals convergent molecular pathways during the development of neurons derived from patients with idiopathic autism. B. A. DeRosa.
1170T Dynamic regulation of RNA-editing in human brain development. T. Hwang.
1171F Longitudinal RNA-seq analysis of Parkinson’s disease patient-derived dopaminergic neurons. K. C. Belle.
1172W Disruptions to the miRNA regulatory pathway may cause an increased rate of schizophrenia in individuals with 22q11.2 DS. W. Manley.
1173T Neurodevelopmental disorders linked to damages in ARX-KDM5C path. A. Padula.
1174F Human neuronal stem cell line validated as in vitro genomic model for studying neurodevelopmental disorders. A. P. S. Ori.
1175W BRAINCODE: How does the Human Genome Function in Specific Brain Neurons? X. Dong.
1176T The expression of long non-coding RNA ANRIL do not affected by Vitamin D treatment in Multiple Sclerosis patients. M. Pahlevan Kakhki.
1177F Oligogenic inheritance in families with amyotrophic lateral sclerosis and frontotemporal dementia. S. M. K. Farhan.
1178W Duplication of 1q21.3-q22 in a child with developmental delay, dysmorphic features and obesity. I. O. Focsa.
1179T Targeted analysis of whole exome sequencing in early onset epilepsy. I. Guella.
1180F The NINDS Repository collection of patient-derived biospecimens available for neurological disorders research. C. A. Pérez.
1181W The alternative expression of GAD1 in human prefrontal cortex. R. Tao.
1182T Functional impact of SNX14 mutations that cause cerebellar atrophy and intellectual disability. D. T. Bryant.
1183F Use of mutant mice to explore a hypothesis of neuronal/synaptic carnitine deficiency as a cause of autism. J. Ge.
1184W Glutamate receptor interacting proteins modulate AMPA receptor phosphorylation and social behaviors in mice. M. Han.
1185T Functional Analysis of the Autism and Intellectual Disability Gene PTCHD1 Reveals Hedgehog Receptor-Like Functions and PDZ-Binding Domain-Specific Regulation of CNTNAP1 and NLGN1. K. Mittal.
1186F Chromatin remodelers in autism: deciphering regulatory networks that contribute to autism risk. R. A. Muhle.
1187W Sonic hedgehog signaling involvement in bipolar disorder is supported by linkage disequilibrium near the EVC and HHIP genes for haplotypes of the D4S2949, D4S397 genotypes according to EVC genotypes among the Old Order Amish. Y. E. Song.
1188T Genetic ablation of the long non-coding RNA Pantr2 affects cortical neuron migration and striatal gene expression in mice. M. Feyder.
1189F Role of ANK2 in autism. J. Li.
1190W Fine-mapping of regulatory variants in schizophrenia. K. Farh.
1191T Pathway analysis of genome-wide SNP data for Gilles de la Tourette Syndrome shows enrichment in genes expressed in nervous system tissues. F. Tsetsos.
1192F A CT-rich intronic haplotype in the SNCA gene confers risk for Lewy Body pathology in Alzheimer’s disease and affects SNCA expression profiles. O. Chiba-Falek.
1193W Layered genetic control of DNA methylation and gene expression: locus of multiple sclerosis in healthy individuals. J. Shin.
1194T De novo BCL11A variants in neurodevelopmental disorder disrupt multiple aspects of protein function. S. B. Estruch.
1195F Deciphering the genetic basis of intellectual disability using 1000 knockouts. B. Yalcin.
1196W Disassembly of MICOS complex by CHCHD10 mutations promotes lossof mitochondrial cristae with defectsin mitochondrial genome maintenance and apoptosis. E. Genin.
1197T Polr3a KI and KI/KO mice do not develop hypomyelinating leukodystrophy. K. Choquet.
1198F Evaluating the expression of the long non coding RNA lnc- IL7R and two isoforms of IL7RA gene in the PBMCs of relapsing-remmiting multiple sclerosis patients. P. Bina.
1199W Divergent transcription of the BDNF gene in human and mouse brain: relevance for schizophrenia. G. Ursini.
1200T Gene expression profiles of cultured neural progenitor cells from patients with schizophrenia provide insight into the disease. C. Armoskus.
1201F Regulatory Function of Schizophrenia-Associated Variants in CACNA1C. N. Eckart.
1202W A human-specific isoform of AS3MT regulated by a human-unique VNTR explains susceptibility to psychiatric illness associated with the 10q24.32 locus. M. Li.
1203T Comparative transcriptomic and metabolomic profiling of psychiatric disorders across three brain regions. R. Ramaker.
1204F Identifying enhancer variants at the POU3F2 locus associated with both cognition and neuropsychiatric disease. S. Q. Shen.
1205W A polymorphism in human α-synuclein affects 3'UTR mRNA isoform expression. E. S. Barrie.
1206T Elucidating the molecular pathways in X-linked dystonia-parkinsonism (XDP): Expression profiling in blood and fibroblasts followed by target transcript analysis in iPSC-derived neurons. K. Freimann.
1207F Transcriptional networks disentangle cognitive decline from Alzheimer’s neuropathology. S. Mostafavi.
1208W Transcriptome analysis of human induced pluripotent stem cells and neural progenitor cells in Tourette’s Disorder. N. Sun.
1209T Gene expression profiling in LRRK2-G2019S purified iPSC-derived dopaminergic neuronal models of Parkinson's disease. C. Webber.
1210F The effects of perinatal Fluoxetine (FLX) exposure in the modulation of neurodevelopment using the Shank3 e4-9/+ mutant mouse model. J. Murry.
1211W Multimodal twin research approach to identify genetic and environmental factors in neurodevelopmental disorders. K. Tammimies.
1212T An integrative disease-relevant multi-omics analysis to predict risk for stress-related psychiatric disorders. J. Arloth.
1213F Snus use is not associated with variation in the CHRNA5-CHRNA3-CHRNB4 gene cluster in Sweden, Norway and Finland. P. A. Lind.
1214W Toxicogenetic approach reveals strong genetic control of environmental toxicant levels and surprising relationship with autism susceptibility. M. Traglia.
1215T The role of translational control in schizophrenia. A. Dang Do.
1216F Expression Profiles of miRNA in Peripheral Blood Associated with Post-Traumatic Stress Disorder in Military Service Members. C. Martin.
1217W Lower Extremity Skeletal Muscle DNA Methylation in Chronic Stroke. H. Xu.
1218T Sp1 modulation of APP and BACE1 activity as a drug target in Alzheimer's disease. B. L. Bayon.
1219F Extracellular RNA sequencing to identify RNA biomarkers of head impact in college athletes. R. Richholt.
1220W L-type voltage-sensitive calcium channel subunit (LVSCC)-A1C is associated with increased Parkinson disease risk only when plasma vitamin D concentration is deficient. L. Wang.
1221T Characterization of a missense variant in the fatty acid amide hydrolase gene (FAAH) in pharmacodynamic response to alcohol in nondependent social drinkers and alcohol-related traits in non-treatment-seeking drinkers and individuals seeking treatment for alcohol dependence. J. Yan.
1222F Brain-derived Neurotrophic Factor genetic polymorphism Val66Met does not interact with stress in Colombian MDD individuals. A. M. Gaviria-Manrique.
1223W The identification of novel genes in anxiety disorders: a gene x environment correlation and interaction study. N. W. McGregor.
1224T The interplay between risky sexual behaviors and alcohol dependence: a genome-wide investigation. R. Polimanti.
1225F Genetic vulnerability of the 5-HTTVNTR (STin2) variant of the SLC6A4 gene in major depressive disorder and childhood stressors in a Colombian population. M. Tovar.
1226W RNA-Seq uncovers specific genetic mechanisms in the hippocampus that are associated with behavioural and cognitive amelioration after environmental enrichment in a mouse model of prenatal alcohol exposure. A. Chokroborty Hoque.
1227T Large causal network analysis of transcriptional specialization in the brains of humans. M. Yang.
1228F Integrative Causal Network Analysis of Imaging and Genetic Data in Schizophrenia Studies. N. Lin.
1229W The use of genetic risk factors to assess prodromal brain changes in Alzheimer's disease. M. K. Lupton.
1230T Investigating the non-linear association of anxiety-depression score with right lingual surface area. B. Couvy-Duchesne.
1231F A practical grading definition for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. I. Coupry.
1232W Animal model module of AutDB catalogues the effects of rescue agents on ASD phenotypes. I. Das.
1233T Phenotype-genotype associations in concordant and discordant monozygotic and dizygotic twins based on quantitative trait and case-control association analyses. V. Hu.
1234F Genetic involvement in progression of MS disease course. M. F. Davis.
1235W Novel mutations in SPTAN1: expanding the neurological phenotype. V. Gartner.
1236T The Neurodevelopmental Spectrum Associated with SHANK-3 Mutations. P. Lawson.
1237F Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. H. Saitsu.
1238W VarDB: a catalog of genetic variability in neurodegenerative disease. D. M. Evans.
1239T Genome-wide Association Study of Clinical Features in the Schizophrenia Psychiatric Genomics Consortium: Confirmation of Polygenic Effect on Negative Symptoms. A. Fanous.
1240F C9ORF72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis without dementia. V. Nimgaonkar.
1241W An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. M. Delatycki.
1242T Cell-free microRNA (miRNA) deregulation in the plasma of Friedreich’s Ataxia patients. D. Subrahamanyam.
1243F A neuronal/synaptic carnitine deficiency hypothesis for prevention of 10-20% of autism. A. Beaudet.
1244W A Mendelian randomization investigation of the causal relationship between atopic dermatitis and psychobehavioral outcomes. L. Paternoster.
1245T Using genetic information to predicting response to treatment in patients with epilepsy. I. Lopes-Cendes.
1246F Characterization of APOE and TOMM40 Allele Frequencies in a Japanese Population. H. Nonomura.
1247W Progression rate from intermediate to advanced age-related macular degeneration varies with the number of risk alleles at the CFH locus. P. J. Persad.
1248T Identification of IKAP responsive-genes as biomarkers for therapy of Familial Dysautonomia. E. Morini.
1249F Cancer frequency among Machado-Joseph disease/Spinocerebellar Ataxia Type 3. L. B. Jardim.
1250W Genetic aspects of sporadic spinocerebellar degeneration in the Japanese population. Y. Takahashi.
1251T RAN Translation in Huntington disease. M. Banez-Coronel.
1252F C9orf72 repeat expansion detection using short-read whole-genome sequencing data. M. A. Eberle.
1253W Large-scale single-molecule sequencing of tandem repeats on the human X chromosome. A. Zablotskaya.
Statistical Genetics and Genetic Epidemiology
1254W Can rare variants account for signals from common variants? F. Begum.
1255T A Comparison Study of Fixed and Mixed Effect Models for Gene Level Association Studies of Complex Traits. C. Chiu.
1256F A Statistical Approach for Testing Pleiotropic Effects of Rare Variants. M. P. Epstein.
1257W Functional Regression Models for Gene-based Association Studies of Complex Traits. R. Fan.
1258T A heterogeneity sequence association test identified novel genes of alcohol addiction in African Americans. W. Ouyang.
1259F Human Population Classification Based on Common and Rare Variants Using Random Forests, Artificial Neural Networks, and Support Vector Machines. M. Rao.
1260W A New Method for Detecting Associations with Rare Copy-Number Variants. J. Szatkieiwcz.
1261T An extended variance-component score test for association of multivariate phenotypes and gene-level rare variants. I. Patanam.
1262F A unified powerful set-based test for sequencing dataanalysis of GxE interactions of rare variants. Y. Su.
1263W Generalized linear Mixed Model Association Tests (GMMAT) for rare variants to control for population stratification and relatedness in sequencing studies with continuous and binary phenotypes. H. Chen.
1264T Robust association testing for quantitative traits and rare variants. P. Wei.
1265F High-dimensional genotypes and phenotypes in rare variant association studies. M. Pirinen.
1266W Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level. J. Y. Tzeng.
1267T Evaluating Power and Sample Size Considerations for Gene Discovery in Rare Diseases. M. H. Guo.
1268F Rare variant association tests for pleiotropic traits in family studies. Y. Chiu.
1269W Conditioning Adaptive Combination of P-values to Analyze Case-Parent Trios with or without Population Controls. W. Lin.
1270T Kernel-Based Association Mapping on the X Chromosome in Samples with Complex Structure. C. McHugh.
1271F Family-based rare variant association analysis: a fast and efficient method of multivariate phenotype association analysis. L. Wang.
1272W Prevalence of Allelic Heterogeneity in Genotype-Tissue Expression (GETx) data. F. Hormozdiari.
1273T EIGEN: A spectral approach for the integration of functional genomics annotations for both coding and noncoding sequence variants. I. Ionita-Laza.
1274F denovolyzeR : an R package for the interpretation of de novo variation in human disease. J. S. Ware.
1275W DISSECT: A new tool for analyzing extremely large genomic datasets. O. Canela-Xandri.
1276T Cost-effective omnibus meta-analysis of massive studies. H. Qin.
1277F Phasing using rare variants and large haplotype reference panels. K. Sharp.
1278W Minimac4: A next generation Imputation Tool for Mega Reference Panels. S. Das.
1279T Beyond homozygosity mapping: Family-control analysis based on Hamming distance for prioritizing variants in exome sequencing. A. Imai.
1280F Web application for statistical power calculations in genotype-based recall randomized controlled trials. N. Atabaki Pasdar.
1281W Structural equation modeling of tuberculosis immune response using genetic data and pedigree structure. N. B. Hall.
1282T FastPop: a rapid principle component derived method to infer intercontinental ancestry using genetic data. Y. Li.
1283F Individualized Coherent Absolute Risk Estimator (iCARE): A Flexible Tool for Absolute Risk Estimation Using Genetic and Environmental Risk Factors. P. Maas.
1284W Doing better than best in linear mixed model association testing. J. A. Mefford.
1285T Analyzing case-parent trio data with the R package trio. H. Schwender.
1286F A new method for ancestry specific association mapping in admixed populations (asaMap). L. Skotte.
1287W Assessing mitochondrial DNA variation and copy number in lymphocytes of ~2,000 Sardinians using tailored sequencing analysis tools. J. Ding.
1288T PODKAT: a software package implementing the position-dependent kernel association test. U. Bodenhofer.
1289F An extension of Conditional Inference Forest methodology for predictive biomarkers and personalized medicine applications. B. Dizier.
1290W Axiom™ HLA Analysis – a tool to impute HLA types. Y. Lu.
1291T Tag SNP selection for low frequency variant imputation in populations of diverse ancestry. G. L. Wojcik.
1292F A unifying method for multiple phenotype, multiple variance component mixed models. A. Dahl.
1293W MEGSA: A powerful and flexible framework for analyzing mutual exclusivity of tumor mutations. X. Hua.
1294T An improvement of the funNorm normalization method for methylation data from multiple cell or tissue types: funtooNorm. C. M. T. Greenwood.
1295F Leveraging the diploid genome to increase power in *QTL studies. M. Subramaniam.
1296W Firth Logistic Regression Reduces Estimation Bias for Rare Variant Analysis or Small-Sample Studies. H. Zhou.
1297T Longitudinal Gaussian graphical model integrating gene expression and sequencing data for autism risk gene detection. K. Lin.
1298F Allele Frequencies of Metabolic Syndrome-related SNPs in a Mexican Mestizo population. R. Arguello.
1299W Allele Frequencies of childhood-onset Acute Lymphoblastic Leukemia-associated SNPs in a Mexican Mestizo Population and their relationship with disease presentation. H.M. Arredondo.
1300T Deep learning and the prediction of human disease risk. N. Furlotte.
1301F Summary Statistics Imputation utilizing Fine-mapping Approach. Y. Wu.
1302W The causal effect of adiposity on vascular dysfunction in healthy adolescents. K. H. Wade.
1303T Estimating aggregate penetrance of actionable genomic findings in European American and African American exomes. R. C. Green.
1304F Improved Association Testing with Linear Mixed Models by Modeling Non-Genetic Phenotypic Covariance Structures. M. Conomos.
1305W Using multi-way admixture mapping to elucidate TB susceptibility in the South African Coloured population. M. Daya.
1306T Multivariate genome-wide association study for metabolic syndrome. Y. Lee.
1307F Meta-analysis of genome-wide association studies with correlated individuals: application to the Hispanic Community Health Study / Study of Latinos (HCHS/SOL). T. Sofer.
1308W GWAS-based Mendelian-Randomization and Path Analyses of Causal Effects of Lipid Risk Factors on Coronary Artery Disease. Y. Tan.
1309T A Mendelian Randomization Study of the Effect of Type-2 Diabetes on Bone Mineral Density. O. S. Ahmad.
1310F Contribution of variants at genes expressed in fetal and adult pancreatic islets to type 2 diabetes risk. K. Gaulton.
1311W Single-variant and Gene-based Tests to Detect Genetic Loci Associated with Diabetic Retinopathy: 1000G Imputation and Whole Exome Sequencing Data. J. Kim.
1312T Identification of Causal Mechanisms in Diabetes Pathophysiology in the Risk of Primary Open-Angle Glaucoma. L. Shen.
1313F Playing musical chairs in multi-phenotype studies improves power and identifies novel associations. H. Aschard.
1314W Reducing false-negative exclusion of GWAS by using redescription and computational topological analysis to identify complex phenotypes describing pathways. D. E. Platt.
1315T Using imputed genotype data in joint score tests for genetic association and gene-environment interactions in case-control studies. M. Song.
1316F Statistical properties of spatial regression based longitudinal analysis. T. Schwantes-An.
1317W Exploring genetic variants for anthropometric traits in Hispanic/Latino populations. M. Graff.
1318T A recall-by-genotype study linking ZNF804A variants to sleep neurophysiology phenotypes. L. J. Corbin.
1319F A practical guide for GWAS based Mendelian randomization analysis. Y. Hu.
1320W Genetically elevated fasting glucose levels and risk of hypertension in African Americans: a Mendelian randomization analysis. S. Tajuddin.
1321T Test of Genotypic Association Allowing for Sequencing Misclassification. L. Zhou.
1322F Novel Association Testing Based on Genetic Heterogeneity in GWAS. W. Pan.
1323W Admixture Mapping with Mixed Models. L. Brown.
1324T Novel Genetic Risk Prediction Model using Multiple Secondary Traits. W. Chung.
1325F Functional-Trait GWAS—Going Beyond Single-Value Traits. N. Fusi.
1326W A general and flexible framework for meta-analyzing dependent studies with overlapping subjects in association mapping. B. Han.
1327T Semi-parametric Allelic Tests For Mapping Multiple Phenotypes: Binomial Regression And Mahalanobis Distance. A. Majumdar.
1328F Evaluation of GWAS-identified 55 SNPs for association with body mass index (BMI) in north Indian population. B. Mittal.
1329W The use of Complimentary Pairs Stability Selection as an approximation to analysis with replication data. J. A. Sabourin.
1330T Using the Coriell Personalized Medicine Collaborative to illustrate the challenges in translating GWAS results to clinical care. L. B. Scheinfeldt.
1331F Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genome-wide association study. Y.A. Shin.
1332W Joint analysis of multiple traits using optimal principal components of heritability. Z. Wang.
1333T Privacy Leaks in Quality Control for Meta-analysis and Effective Countermeasures. W. Xie.
1334F Bayesian large-scale regression with GWAS summary statistics. X. Zhu.
1335W Genetic determined lipoprotein cholesterol levels and age-related macular degeneration. C. Y. Cheng.
1336T Detecting allele specific expression in large scale genetic expression studies using overdispersed Poisson linear models. G. Gliner.
1337F A unified framework of association mapping for admixed samples. Y. Guan.
1338W Impact of gene-environment correlation on genome-wide analysis. C. Chen.
1339T Assortative mating causes biases in SNP-heritability estimates. R. Tahmasbi.
1340F Multi-trait analysis of genomic heritability and genomic correlations in the Training Interventions and Genetics of Exercise Response (TIGER) study. A. I. Vazquez.
1341W Bivariate Analysis and Prediction of AMD progression Using Genetic Scores. Y. Ding.
1342T A novel gene-based analysis method based on MB-MDR. R. Fouladi.
1343F Identification of significant genetic variants via SLOPE and Group SLOPE. A. Gossmann.
1344W Allele Specific Expression Can Substantially Limit Genotype/Phenotype Associations. J. Dannemiller.
1345T Improved fine mapping using generalized likelihood ratios. W. Li.
1346F A new and scaleable Bayesian framework for joint re-analysis of marginal SNP effects. P. J. Newcombe.
1347W Test rare variants for multiple traits in admixed populations. X. Wang.
1348T Investigation of heterogeneity of genetic effects in severe malaria sub-phenotypes across sub-Saharan Africa, Asia and Oceania. G. M. Clarke.
1349F A High-Throughput Platform for Functional Validation of CFTR Variants. A. A. Sockell.
1350W The Prevalence of Nonclassic Congenital Adrenal Hyperplasia Mutations in the Ashkenazi Jewish Population. M. S. Elman.
1351T Risk Prediction Modeling of Sequencing Data Using Random Field. Y. Wen.
1352F Evaluation of stepwise and penalized regression methods in selecting a set of genetic predictors explaining quantitative trait variation. A. J. M. Sorant.
1353W Characterizing power of Adjusted-trait Regression in GWAS with quantitative traits. P. Yajnik.
1354T Estimates of genetically regulated gene expression and associated genetic predictors explain variance of type 2 diabetes. J. Torres.
1355F Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. C. Smith.
1356W Isovaleryl-CoA dehydrogenase as a drug target for fibrotic idiopathic interstitial pneumonias. S. Ross.
1357T Polygenic risk prediction model based on winner's curse correction and multidimensional thresholding. N. Chatterjee.
1358F Impact of Surrogate Variable Analysis on eQTL Discovery and Application to RNA-Seq Data. C. Lu.
1359W Estimating clinical outcomes and classifying CFTR variants of unknown significance in children with a positive newborn screening for Cystic Fibrosis. D. Conti.
1360T Associations of high-risk genetic factors with dementia in the Korean elderly population. J. J. Lee.
1361F A generalized joint location-scale association test for uncertain genotypes and related individuals. D. Soave.
1362W Meta-Analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs. Z. Tang.
1363T Non-Parametric Analysis reveals Novel Genetic Associations with variation in Plasminogen Activator Inhibitor-1 levels. M. J. White.
1364F Evaluation of alternative imputation strategies for mega-analysis of multiple genotyping cohorts: maximizing imputation yield while minimizing artifacts. S. C. Nelson.
1365W Finding and characterizing latent genetic sub-structure for imprecisely defined phenotypes. H. Finucane.
1366T Implications of the Co-Dominance Model for Hardy-Weinberg Testingin Genetic Association Studies. S. Wellek.
1367F An approach combining the construction of haplotype collection and the design of population-optimized SNP array on the large-scale whole genome-sequencing project in Japan. Y. Kawai.
1368W Detecting the source of DNA contamination in genotyping arrays. G. J. M. Zajac.
1369T Genetic architecture and disease prediction. E. Ziv.
1370F Plan a large-scale genetic association study for predictive modelling. C. Kuo.
1371W The Alzheimer Disease Sequencing Project: Design and Sample Selection. G. Beecham.
1372T PMAD: Precision Medicine Adaptive Designs for Validation of Genetic Biomarker Information for Targeted Therapeutics. Q. Wu.
1373F Methodology for the analysis of multi-ethnic genome-wide association studies. J. P. Cook.
1374W The LASER server: a web-based tool for tracing individual ancestry in a reference principal component space. D. Taliun.
1375T Unified tests for fine scale mapping and identifying sparse high-dimensional sequence associations. S. Cao.
1376F Evidence for Further Colorectal Cancer Susceptibility Genes in Addition to the Mismatch Repair Genes and MUTYH. M. Jenkins.
1377W Methods for detecting modifier genes responsible for phenotypic heterogeneity. J. C. Carlson.
1378T An effective approach to identify rare variants associated with common diseases utilizing large families. J. Sul.
1379F A family-based rare variant association test for time-to-event data based on the frailty model. W. Qi.
1380W An approach to high resolution IBD mapping under a linkage peak. J. E. Hicks.
1381T Linkage Analyses Reveals Significant Association for Myopia. A. Musolf.
1382F Power of Single Extended Pedigrees to Classify Rare Variants of Uncertain Significance in BRCA1 and BRCA2. B. H. Shirts.
1383W Large-scale phenome-wide scan in twins using electronic health records. S. Hebbring.
1384T Detection of Gene-Gene Interaction and Genomic Imprinting in Affected Sib Pairs. C. C. Wu.
1385F Association and Meta-analysis Methods for X Chromosome. S. Feng.
1386W PSEUDOMARKER-WGS: Family-based association tests for whole genome sequence data. T. Hiekkalinna.
1387T Statistical testing for rare variant associations using affected family members. K. Lin.
1388F A Quasi-likelihood Approach To Detect Transmission Bias Using Sibship Data. H. S. Kulkarni.
1389W Increased power for detection of parent-of-origin effects via the use of haplotype estimation. R. A. J. Howey.
1390T The LRRK2 gene is a shared genetic regulator among three clinically divergent common inflammatory disorders. V. M. Fava.
1391F The use of composite bi-allelic markers revisited: Creating highly informative multi-allelic markers from SNP and next generation sequence data. A. F. Wilson.
1392W Regional IBD Analysis (RIA): a new method for linkage analysis in extended pedigrees using genome-wide SNP data. H. J. Cordell.
1393T Using genealogy clusters to find high-penetrant disease variants in the Danish population. A. Rosengren.
1394F A two-stage rare variant association test for family data with quantitative traits. Y. Jiang.
1395W Three networks comprised of both multiple sclerosis and obesity-associated genes demonstrate strong evidence of protein-protein interaction and significantly increase disease susceptibility: Results from the Kaiser Permanente MS Research Program. M. Gianfrancesco.
1396T Sovereignty Hypothesis: Strong effect of HLA shared epitope alleles in developing risk for rheumatoid arthritis is due to massive gene-gene interactions. L. Padyukov.
1397F Construction and inference of large-scale biological network using Gaussian graphical model. W. Chen.
1398W Data-Driven Genetic Encoding: A robust approach for detecting diverse action in main effect models and genetic interactions. M. A. Hall.
1399T Sparse Functional Structural Equations for Causal Genotype-Phenotype Network Analysis with Next-Generation Sequencing Data. M. Rahman.
1400F Modelling the IGF-Axis as a gene-network to identify early predictors of elevated blood pressure in children and adolescents. P. G. Parmar.
1401W Genome-wide search for gene-gene interactions in asthma susceptibility. W. Murk.
1402T A novel gene-level test of association using common variants. P. Nakka.
1403F Causal gene-gene and gene-environment interaction network analysis- A new generation of genetic interaction studies. M. Xiong.
1404W Multivariate Functional Regression Models for Epistasis Analysis. F. Zhang.
1405T Genetic interaction networks reveal novel Type 2 Diabetes networks in the Marshfield PMRP. R. Li.
1406F Testing for gene-by-environment interaction using a kernel-based score test. F. Chen.
1407W Detecting Interactions By Leveraging Genetic Ancestry. D. S. Park.
1408T Extracting socioeconomic data from electronic health records for gene-environment studies of blood pressure. B. Hollister.
1409F Using Bayes model averaging to identify GxE interactions in genome-wide association studies. L. C. Moss.
1410W Integration of text mining and epistasis analysis identifies new genes underlying atopy. P.-E. Sugier.
1411T Pathway analysis of next generation sequencing data based on a linear score test. S. Wang.
1412F A stochastic search algorithm for finding multi-SNP effects using nuclear families. C. R. Weinberg.
1413W Detecting 3-way G x AGE x SEX interaction effects for obesity traits: Methodological evaluation of approaches and results from the GIANT consortium. T. W. Winkler.
1414T Multivariate functional regression model for gene-gene interaction analysis of highly correlated gene expressions. K. Xu.
1415F A comparison of methods for inferring causal relationships between genotype and phenotype using multi-omics data. H. F. Ainsworth.
1416W Pathway Analysis of Genome-Wide Glaucoma Data. J. N. Cooke Bailey.
1417T A Highly Adaptive Test for Gene- or Pathway-Multivariate Trait Association with Application to Neuroimaging Data. J. Kim.
1418F Covariate-selection approach in Genome Wide Association Studies for multivariate data. Y. A. Tsepilov.
1419W Identifying ethnic-group and SNP interaction in meta-analysis for sequencing association studies. S. Wu.
1420T New disease susceptibility loci identified by a multiple SNPs interaction search in GWAS. Y. Yasui.
1421F A Statistical Approach for Testing Gene by Microbiome Interactions. N. Zhao.
1422W Efficient heritability partitioning via controlled down-sampling with the Haseman-Elston approximate regression. X. Zhou.
1423T Causal Genomic Network Analysis emerges as a New Generation of Genetic Studies of Complex Diseases. Y. Zhu.
1424F Genetic modifiers of immune reactivity to a human pathogenic mycobacterium. J. Manry.
1425W A variable selection method for identifying complex genetic models associated with human traits. E. R. Holzinger.
1426T Bayesian Kernel Based Modeling and Selection of Genetic Pathways and Genes for Cancer. Z. Wang.
1427F Modified Random Forest Algorithm to Identify Gene-Gene Interaction in Case-Parent Trios Studies of Oral Cleft. Q. Li.
1428W Causal Inference for Integrative Analysis of Genetic and micro RNA variation. P. Wang.
1429T Comparison and optimization of different centrality measures algorithms used in human gene network analysis. T. Zhang.
1430F Differential expression of transcript isoforms in schizophrenia. E. Drigalenko.
1431W A HMM-based method to harmonize discordant genotypes obtained from DNA sequencing and genotyping experiments in the same samples. C. Low-Kam.
1432T Imputing LoF variants in Finnish founder population using population-specific reference panels. A. Sarin.
1433F Chinese population allele frequency estimations based on large-scale non-invasive prenatal testing samples. H. Xu.
1434W Joint whole-genome analysis of associations between host and hepatitis C virus diversity in a patient cohort. V. Pedergnana.
1435T The KOPS Registry: A unique cohort for the study of the genetics of obesity and weight loss. A. G. Comuzzie.
1436F A population-specific reference panel empowers genetic studies of Anabaptist participants through improved imputation and variant filtering. L. Hou.
1437W Measuring the value of GWAS results in a clinical trial setting. P. Patil.
1438T Equivalence tests for the analysis of genotyping data: Assessing equality of SNPs in study cohorts. Z. Talebizadeh.
1439F Integrating genome-wide meta-analyses of binary and continuous phenotypes. R. K. Walters.
1440W Assessing models for genetic prediction of complex traits: visualization and quantitative methods. S. A. Gagliano.
1441T Measuring the rate and heritability of aging in Sardinians using pattern recognition. D. Schlessinger.
1442F The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Imputing rare variants in ~100,000 individuals. T. J. Hoffmann.
1443W Heritability and genetic correlations among hormone and cytokine levels related to type 2 diabetes. R. L. Hanson.
1444T A simple yet accurate correction for winner's curse can predict signals discovered only in larger genome scans. S.-A. Bacanu.
1445F Study the effects of multiple mediators using DNA methylation. J. Shen.
1446W Genetic susceptibility to higher insulin secretion is associated with obesity. J. N. Todd.
Evolutionary and Population Genetics
1447W Genetic determinants of multiple sclerosis susceptibility in US minority populations. A. Beecham.
1448T Comparisons of Genetically Inferred and Self-reported Race/Ethnicity in US Adults: Results from the National Epidemiologic Survey on Alcohol and Related Conditions – III. H. Zhang.
1449W A New Approximate Bayesian Computation (ABC) framework based on Local Ancestry to Infer Admixture Events. M. H. Gouveia.
1450T Demographic inferences from 447 complete human genome sequences from 148 populations worldwide. M. Metspalu.
1451W Reconstructing the Genetic History of Indigenous Caribbean Populations. T. Schurr.
1452T Strong selection at MHC in Mexicans since admixture. Q. Zhou.
1453W Genetic origins and admixed ancestry characterization of Japanese people. W. Ko.
1454T The genetic structure of the Saudi Arabian population. H. Al-Saud.
1455W Recent genetic history of Denmark. G. Athanasiadis.
1456T Assessing the benefits of priors that encourage sparsity for estimating ancestral admixture from genome-wide data. P. Carbonetto.
1457W Whole Genome Sequence Identity by Descent Segment Sharing Across Diverse Populations. N. Chambwe.
1458T Characterizing Brazilian sickle cell anemia patients. P.RS. Cruz.
1459W Ancient European haplotype enrichment in modern Eurasian populations. D. Harris.
1460T Refining the South Asian origin of the Roma people. B. Melegh.
1461W Admixture and ancestry patterns of three Brazilian quilombo remnants communities. C. T. Mendes-Junior.
1462T Sex-Biased Admixture in the Americas. S. Musharoff.
1463W A novel approach to developing an ancestry informative marker panel for individual identification and population admixture characterization based on common population-specific SNPs. D. Sengupta.
1464T The Demographic Patterns Revealed by New World African Diaspora Genome. W. Song.
1465W The genetics of Bene Israel from India reveals both substantial Jewish and Indian ancestry. Y. Waldman.
1466T The Population Structure of Nunavik Inuit People. S. Zhou.
1467W A genetic and socio-economic study of mate choice in Latinos reveals novel assortment patterns. J. Y. Zou.
1468T Population Structure Analysis of Few Northwest Punjabi Populations based on Microsatellites and Alu Insertion Elements. M. Kaur.
1469W A new population structure analysis approach specifically designed for whole genome sequence data. M. Robinson.
1470T PCA-seq: Population Structure Inference with Rare Variants from Sequencing Data. T. Thornton.
1471W Population analysis of INDELS markers in a sample of individuals from Santander, Colombia. N. A. Trujillo.
1472T Personalized genomic medicine challenges due to ancestry: disparities in the African Diaspora. M. D. Kessler.
1473W Percent African admixture is associated with telomere length in a healthy adult population. L. R. Yanek.
1474T Comparative analysis of transcriptome of different neurons in the human brain. L. Yang.
1475W Sequence and Amplicon Diversity Among Chimpanzee Y Chromosomes. M. T. Oetjens.
1476T Trends in DNA methylation with age replicate across diverse human populations. S. Gopalan.
1477W On estimating the shared genetic basis of complex phenotypes between populations. B. C. Brown.
1478T mQRF: A random forest model on meQTL detection by using chromatin states, haplotype structure and chromatin interaction information. Y. Liu.
1479W The genomic and epigenomic properties of sexual dimorphism in human meiotic recombination. C. Bhérer.
1480T Insights into meiotic recombination from characterization of non-crossover and crossover events in a mouse humanized at PRDM9. R. Li.
1481W Estimating Rates, Tract Lengths and Contributing Factors to Non-Allelic Gene Conversion. A. Harpak.
1482T Geometry of ancestral links: Pathogenic clues. M. Jeanpierre.
1483W Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations. R. J. Pengelly.
1484T Regulation of crossover placement in human meiotic recombination. C. L. Campbell.
1485W Inferring the parental haplotype source of germline-transmitted de novo duplications from population genotype data. Y. Liu.
1486T Pleiotropic constraint in the Human Transcription Factor Network. K. Chesmore.
1487W The birth of a human-specific neural gene by incomplete duplication and gene fusion. M. L. Dougherty.
1488T An unsteady molecular clock in primates. P. Moorjani.
1489W Long-term survival of duplicate genes despite absence of subfunctionalized expression. X. Lan.
1490T The effect of life history on the rate of the molecular clock and implications for great apes. G. Amster.
1491W Linked selection dominates the genomic landscape of Great Apes. A. Woerner.
1492T The genetic handicap principle: a severely deleterious mutation can be tolerated if the genome-wide mutation load is sufficiently low. K. Popadin.
1493W Prevalence of Ebola viral entry resistance in a diverse population. P. F. Cherukuri.
1494T Chromosome-wide scan to identify rapidly mutating Y-STRs. T. Willems.
1495W The Qatari Genome: A Population-Specific Tool to Facilitate Precision Medicine in the Middle East. KA Fakhro.
1496T Association of polymorphism ADIPOQ rs2241766 (45 T/G) and ADIPOQ rs1501299 (276 G/T) with obesity in breast cancer patients. A. Mendez-Hernandez.
1497W Exploring variation in mosaicism and the mutation rate over time in the mammalian genome. S. J. Lindsay.
1498T A genome-wide association study revealed an association between HLA locus and positivity of rheumatoid factor in Japanese patients with rheumatoid arthritis. T. Hosozawa.
1499W Contributions of short tandem repeats to the phenotypic variation and heritability of a simulated gene expression trait. E. C. Glassberg.
1500T Human Mitochondrial Indel Discovery via de novo Assembly and its Applications. M. Su.
1501W An overview of the HLA-C promoter and 3’untranslated region variability and haplotype structure. E. C. Castelli.
1502T Characterization of the microsatellite mutation process at every locus in the genome. M. Gymrek.
1503W Gender-based differences on SNP polymorphisms in candidate genes to obesity: study of the general Mexican Mestizo population. E. A. Hernández-Tobías.
1504T Influence of deleterious and disease variants on gene expression in human populations. D. Lu.
1505W The Impact of Promoter Polymorphisms on Infant Outcomes and Cytokine Concentration in Preterm Breast Milk. K. L. Baumgartel.
1506T Profile of pathogenic alleles in healthy Lithuanian population. V. Kucinskas.
1507W The effects of single nucleotide polymorphisms on the function of HSPA1A, a key regulator of the cellular stress response in humans. R. M. Oliverio.
1508T Whole-genome reference panel of Tohoku Medical Megabank Organization (ToMMo) and variant annotations. Y. Yamaguchi-Kabata.
1509W Novel validated Alu elements insertions from Mobile-Element Scanning. J. Feusier.
1510T Detecting signatures of positive selection associated with musical aptitude in the human genome. I. Jarvela.
1511W Understanding high-altitude adaptations in Tibetans using population genetic and genetic association analyses. C. Jeong.
1512T A population genetics perspective on quantitative traits. Y. B. Simons.
1513W Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal. D. Risso.
1514T Clarifying the disputed role of FOXP2 in modern human origins. E. G. Atkinson.
1515W Adaptation via gene flow in Africa: a novel approach using ancestry to identify regions of the genome under natural selection. G. B. J. Busby.
1516T Joint Analysis of Natural Selection and Disease Association. K. A. Hartman.
1517W Reintroduction of a Homocysteine Level-related Allele into East Asians by Neanderthal Introgression. Y. Hu.
1518T OCA2 confers convergent skin lightening of East Asians during recent human evolution. B. Su.
1519W Human nose shape differentiation is due in part to adaptation to local temperature. A. A. Zaidi.
1520T Identifying the target of selective sweep. A. Akbari.
1521W A new measure of positive selection reveals genome-wide polygenic adaptation for complex traits in humans' recent evolutionary past. E. A. Boyle.
1522T Estimating The Selective Effect For Each Gene Using Large Scale Population Data. C. A. Cassa.
1523W The lingering load of archaic admixture in modern human populations. K. Harris.
1524T Pleiotropic effects of immune responses explain variation in the prevalence of fibroproliferative diseases. M. Huang.
1525W Signatures of positive natural selection targeting human microsatellites and estimation of relevant mutational and selective parameters. R. Johnson.
1526T Evolution of the ‘fused’ gene family’s repeat region in primates. V. Romero.
1527W Signals of Selection in Genes Associated with Autoimmune Diseases. R. Rothwell.
1528T Natural Selection on HFE in Asian Populations Contributes to Enhanced Non-heme Iron Absorption. K. Ye.
1529W Prevalence of an archaic high altitude adaptive EPAS1 haplotype in the Himalayas. Q. Ayub.
1530T Genetic Basis of Polygenic Adaptation in Indigenous Siberian Populations Inferred using Exome Sequencing Data. P. Hsieh.
1531W Population structure analysis in a Southwest American Indian population: potential for understanding natural selection in disease susceptibility. P. Kumar.
1532T A Genomic Map of Positive Selection in Sardinia. J. H. Marcus.
1533W Analyzing Nonsynonymous SNPs in their Protein Structural Context Reveals Novel Signatures of Population Differentiation in Humans. R. M. Sivley.
1534T Novel probabilistically interpretable methods for identifying and localizing genomic targets of selective sweeps. L. A. Sugden.
1535W Adaptation in global human populations has been hard, soft and polygenic. Z. A. Szpiech.
1536T A 3.4-kb copy number deletion near EPAS1 is significantly enriched in high-altitude Tibetans but absent from the Denisovan sequence. S. Xu.
1537W Purifying selection governs the evolution of the major chaperone sub-network in humans. K. Hess.
1538T Strong evolutionary constraint on human genes escaping X-inactivation is modulated by their expression breadth and level in both sexes. A. Slavney.
1539W Evolving ancestry: The shift in individual ancestry composition over time. D. R. Velez Edwards.
1540T Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations. R. B. Lemes.
1541W The Recent History of Human Population Size. A. Rogers.
1542T Y-chromosome diversity suggests southern origin and Paleolithic backwave migration of Austro-Asiatic speakers from eastern Asia to the Indian subcontinent. XM. Zhang.
1543W Historical migrations and mating patterns affect the genetic landscape of the United States population today. R. Curtis.
1544T Mitochondrial DNA analysis suggests a Chibchan migration into Colombia. MC. Noguera.
1545W Ancient mitochondrial genetic diversity across time and space in the Iñupiat populations of North Alaska. J. Tackney.
1546T Mitochondrial DNA Haplogroup C Phylogeny for Altaian Populations and its Implications for the Peopling of Siberia and the Americas. A. Askapuli.
1547W Structured mating and its genetic consequences in the multi-ethnic Kaiser Permanente (KP) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. Y. Banda.
1548T A comprehensive, diachronic and comparative picture of the mitogenome variation along the Americas. A. Achilli.
1549W The relative effective population size of chromosome X and the autosomes along distinct branches of the human population tree. L. Arbiza.
1550T Accurate non-parametric estimation of recent effective population size from segments of identity by descent. S. R. Browning.
1551W Past demography revealed from rare variants with population specific FST values. J. Goudet.
1552T Historical mating patterns in the U.S. revealed through admixture and IBD patterns from genome-wide data from over 800,000 individuals. J. M. Granka.
1553W Discovery of a previously unknown ancestral origin of the modern Taiwanese population that is distinct from the north-south gradient seen in other Han Chinese populations using the Taiwan Biobank. C. W. Lin.
1554T Estimation of growth rates for populations and haplogroups using full Y chromosome sequences. F. L. Mendez.
1555W Bayesian Nonparametric Inference of Population Size Changes from Sequential Genealogies. J. Palacios.
1556T Modeling SNP array ascertainment with Approximate Bayesian Computation to improve demographic inference. C. Quinto.
1557W Selective constraint and sex-biased demography of human populations from X chromosome-autosome comparisons. M. H. Quiver.
1558T Genetic, Geographic and Cultural Reconstruction of an Ancient Endogamous Community. D. K. Sanghera.
1559W Unique autosomal STR heterogeneity among three traditional populations from historical Tibet. T. Tsering.
1560T Geographic patterns of Identify-by-descent recapitulate fine-scale migration history of the African Americans. Y. Wang.
1561W Reconstructing genetic history of Siberian and Northeastern European populations. E. Wong.
1562T Ages of mitochondrial DNA lineages coincides with the agriculture spread in Finland. S. Översti.
1563W Fine scale population structure of Spain and the genetic impact of historical invasions and migrations. C. Bycroft.
1564T Polygenic Adaptation Regression Analysis. Y. Field.
1565W Patterns of IBD (identity-by-descent) sharing among 780,000 present-day Americans reveal geography and recent settlement history in the United States. E. Han.
1566T Identity by descent analysis reveals fine-scale population structure in Crete. A. M. Plantinga.
1567W The fine-scale genetic structure of the Japanese population: estimation of genetic materials derived from Asians and the basis of genetic differentiation. F. Takeuchi.
1568T Recent polygenic adaptation in Europe. N. Telis.
1569W Insights on modern human migration and rare variation spread using ten of millions of genealogical profiles. M. Wahl.
1570T ‘Human Knockout Project’ in a Pakistani population with high levels of consanguinity. P. Natarajan.
1571W Homozygous loss-of-function variants in European cosmopolitan and isolate populations. J. Wilson.
1572T Harnessing the power of exome sequencing and isolated populations to identify risk factors for inflammatory bowel disease. M. A. Rivas.
1573W Rare coding and regulatory noncoding variants in the Saguenay-Lac-Saint-Jean founder population. A. Morin.
1574T Whole genome view of the Finnish bottleneck effects using 2926 whole genome sequences from Finland and UK. H. Chheda.
1575W A genetic population isolate in The Netherlands showing extensive haplotype sharing and long regions of homozygosity. L. Olde Loohuis.
1576T Recessive disease gene mapping in India: extraordinary opportunities for understanding health and disease. N. J. Nakatsuka.
1577W Using Y chromosome diversity to investigate the origin and the formation of the Taiwanese. J. Loo.
1578T Characterization of 20,000 clinically relevant variants in 50,000 non-European individuals. E. E. Kenny.
1579W Understanding germline mutation from multi-sibling families. R. Rahbari.
1580T Most Rare and Common Variants in the MAP3K1 Gene Have Neutral Phenotypic Effects. M. Groden.
1581W Rare variants: The key to decipher cryptic relatedness in diverse population structures. A. C. Shetty.
1582T Path Analysis and Structural Equation Modeling for traditional cardiovascular risk traits in Punjabi adolescents. S. K. Brar.
1583W Privacy leaks from genomic data-sharing beacons. S. Shringarpure.
1584T Using DNA methylation data to test heritability-based predictions of evolutionary models of aging. C. Robins.
1585W The NHGRI Sample Repository: A Collection of DNA and Cell Lines for Human Genetic Research. A. M. Resch.
1586T The effect of SNP array ascertainment bias on the distribution of runs of homozygosity lengths. A. Gladstein.
1587W Anthropometric and cardiovascular trait variation among sub-Saharan African populations: the impact of subsistence practice and genetic ancestry. M. E. B. Hansen.
Bioinformatics and Genomic Technology
1588W Splice site mutation in the key cytoskeletal gene TLN1 causes systemic capillary leak syndrome in a first reported familial case. D. Oz-Levi.
1589T Splice-EMASE: Quantifying allele-specific alternative splicing in diploid genomes. N. Raghupathy.
1590F A system for gene ranking through variant annotation in Autism Spectrum Disorders. E. Larsen.
1591W Typing of PRDM9 genotypic class from next generation sequencing data in early onset childhood cancer. A. Ang Houle.
1592T Genomic Crowdsourcing: Allele Frequency Community Provides Expansive, Ethnically Diverse, Freely Available Community Resource for Allele Frequency Annotation. D. Bassett.
1593F Robust Classification of Protein Variation Using Structural Modeling and Large-Scale Data Integration. E. H. Baugh.
1594W Big Data Warehouse for Large Scale Genomics. B. Bernard.
1595T Increased Statistical Power Using Informed Conditioning in Case-Control Studies. M. Bilow.
1596F A resampling-based method for comparison of location parameters in multivariate datasets. M. Borges.
1597W Multilevel Regression Approach for Cross-Platform Transformation of Gene Expression Data. Y. Cheung.
1598T An automatic next-generation sequencing analysis pipeline for family-based disease studies. R.-H. Chung.
1599F An automated, differences-based model for retrospectively applying dynamic annotation data to static whole exome sequencing result sets. D. Corsmeier.
1600W Gene and pathogenic variant discovery for Mendelian and Complex Familial Traits. H. Dai.
1601T The ClinGen Interface for Curating the Clinical Validity of Gene-Disease Associations: Specifications and Implementation. S. Dwight.
1602F Efficient testing of multiple phenotypes in genome-wide association studies. L. Gai.
1603W In silico Construction of Personalized DNA Methylation Biomarkers. E. Gatev.
1604T Leveraging tumor lineage trees to predict and genotype somatic structural variations using paired-end sequencing. I. Hajirasouliha.
1605F Bior_annotate and VCF-Miner: An annotation and visualization framework designed for a constantly evolving genomic landscape. S. Hart.
1606W EpiCenter2: a powerful tool for RNA-seq and ChIP-seq data analysis. W. Huang.
1607T FOAM: avoiding misleading variants in genomic regions Frequently Observed As Mutated. C. Humphries.
1608F FIRE: functional inference of genetic variants that regulate gene expression. N. M. Ioannidis.
1609W Turning Publicly Available Gene Expression Data into Discoveries Using Gene Set Context Analysis. Z. Ji.
1610T An automatic end-to-end solution for disease-causing variant detection in rare and hereditary diseases with a high case solve rate and a much reduced false positive rate. A. Joecker.
1611F HITseqClust: Analysis of HIV-1 Integration Targeting-sequencing (HIT-seq) data to identify gene clusters targeted by specific transcription factors. R. C. Johnson.
1612W Model selection via iterative hard thresholding for genome-wide association studies. K. L. Keys.
1613T Automated Identification, Prioritization and Visualization of Large-Scale Genomic Data. M. J. Kiel.
1614F SoloDel: A probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data. S. Kim.
1615W FMAP: Functional Mapping Analysis Pipeline for Comparative Metagenomics and Metatranscriptomics. J. Kim.
1616T Improving haplotype phasing accuracy using many short IBD segments. A. Kleinman.
1617F coalescentSTR: a statistical approach for short tandem repeat number estimation based on coalescent theory from high-throughput sequencing data. K. Kojima.
1618W Bayesian learning of risk variants and functional enrichments in pleiotropic traits. Y. Li.
1619T Improving Specificity in Ion Proton Data. D. S. Lieber.
1620F Low-cost ancestry inference using targeted sequencing. B. Liu.
1621W Improved Algorithm for Amplicon Sequencing Assay Designs. G. Liu.
1622T Normalization for correcting systematic variation in microarray genotyping. J. Liu.
1623F APIGenome: A public library for big data genomic analysis tools. A. Liu.
1624W WGSA: an annotation pipeline for human genome sequencing studies. X. Liu.
1625T Slippage-Associated Repeat Identification and Analysis (SARIA) in silico at Sites of Chromosomal Structural Change. S. Ma.
1626F A pairwise genomic distance measure to evaluate the effect of donor/recipient genomic proximity on unrelated stem cell transplantation. A. Madbouly.
1627W SPRITE: A Fast Parallel SNP Detection Pipeline. K. Madduri.
1628T Alignment, phasing and structural variant detection with linked reads. P. Marks.
1629F Geisinger GenomeFIRST™ and Targeted Family History Collection. S. A. Martin.
1630W Massively Parallel Demultiplexing of Raw Illumina Sequencing Data. B. R. Myers.
1631T CANNOTATE: A Genomic Sequencing and Annotation Database. J. D. Newcomer.
1632F Integrated Genome Mapping in Nanochannel Arrays and Sequencing for Better Human Genome Assembly and Structural Variation Detection. A. W. C. Pang.
1633W An accurate and sensitive approach to detecting source of variance in DNA methylation Beta values. Y. Park.
1634T Discovering combinatorial patterns of histone modification regulating gene expression. S. Park.
1635F GenomeWhiff and DigitalKindred: Ultra-Fast Similarity Search, Clustering and Classification of Very Large Number of NGS Samples Using Bitwise Operations. J. Patel.
1636W Software for the visualisation of genetic variation and its implication on protein sequences and 3D structures. A. Prlic.
1637T Improved Transcription Factor Binding Site Prediction using DNase-seq Footprinting in a Supervised Discriminatory Machine Learning Framework. B. C. Quach.
1638F Authorial: An author list management system for scientific papers. N. W. Rayner.
1639W Best practices for deploying a high throughput pipeline for variant calling in an extremely large cohort of whole genome sequenced samples. N. Rustagi.
1640T VarAFT: A variant annotation and filtration system for exome sequencing data. D. Salgado.
1641F cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction. P. S. Samarakoon.
1642W Benchmarking Strand NGS RNA aligner against TopHat2 and other common splice aligners. A. Sathyanarayanan.
1643T Accurate somatic mutation detection at low allelic frequency and low copy number applied to liquid biopsy samples. M. Schwartz.
1644F COSMOS: accurate detection of complex somatic structural variations through asymmetric comparison between tumor and normal samples. J. Sese.
1645W A tool for developing and validating supervised learning risk prediction models. S. Shankaracharya.
1646T QuicK-mer: A rapid paralog sensitive CNV detection pipeline. F. Shen.
1647F GENALICE MAP: efficient and accurate population genomics. B. Tolhuis.
1648W Applying compressed sensing to genome-wide analysis of qualitative traits. S. Vattikuti.
1649T Computational Framework for Heterogeneity Assessment and Characterization in Single Cell Sequencing Data. K. Volyanskyy.
1650F Deconvolution for Mixed Cancer Transcriptomes from Heterogeneous Tumor Samples with Immunal Infiltration. Z. Wang.
1651W Correcting nucleotide-specific biases in high-throughput sequencing data. J. R. Wang.
1652T HGSC Variant warehouse, a scalable, varianted-centered database running in hadoop. S. J. White.
1653F NGS-SWIFT: A Cloud-Based Variant Analysis Solution Using Control-Accessed Sequencing Data. C. Xiao.
1654W A hidden Markov random field based Bayesian method for the de-tection of long-range chromosomal interactions in Hi-C Data. Z. Xu.
1655T Pathway analysis of genomic loci uisng the seq2pathway Bioconductor package. X. H. Yang.
1656F Development of an effective clinical interpretation solution for genomic data. P. Yu.
1657W Introducing Awsomics: a cloud-based bioinformatics toolbox. Z. Zhang.
1658T Sequence Analyzer (SeqA): a computationally efficient large-scale sequence data quality control pipeline and analysis framework. D. Zhang.
1659F Speciman: A new low-frequency variant caller with significantly increased specificity. J. Zhang.
1660W Zodiac: A Comprehensive Information System of GeneticInteractions in Cancer Based on Statistical Models of TCGA Data. Y. Ji.
1661T Genomic analysis of multiple data types in cancer patient cohorts in GenePool platform allows fast and efficient multi-dimensional view of biological mechanisms. A. Vladimirova.
1662F Decoding the code of chromosomal translocation: a computational approach. R. M. Rawal.
1663W Design and Implementation of an Cloud-Based Graphical Interface for Variant Exploration and Classification. X. Xu.
1664T Run Smarter, Not Harder: Scalable Joint Variant Discovery with GATK. S. Chandran.
1665F Risk Allele Distribution Visualizer (RADViz-QT): A novel computational tool to estimate continent-specific differences in Cumulative Genetic Risk (CGR) for quantitative traits and diseases. A. Choudhury.
1666W Characterizing transcriptional heterogeneity through pathway and gene set overdispersion analysis. J. Fan.
1667T BDQC: a general-purpose analytics validation tool for Big Data Discovery Science. G. Glusman.
1668F A novel approach to genome-wide association analysis: SNP Pairs In Neighboring Distance and Linkage Equilibrium (SPINDLE). A. P. Khawaja.
1669W Genvisis: Visualization and batch correction of copy number variation at the population level leads to higher accuracy and the ability to analyze data on sex chromosomes. J. Lane.
1670T KeBABS: an R/Bioconductor package for kernel-based analysis of biological sequences. J. Palme.
1671F HPMV: Human Protein Mutation Viewer. W. A. Sherman.
1672W The ENCODE Analysis Pipelines: Tools for Repeatable, Standards-Based Analysis and Quality Control of Chromatin, Expression, and Methylation Experiments. J. S. Strattan.
1673T PhASTESt, a user friendly tool for power calculations in pharmacogenomic studies with “time to event” outcomes. H. Syed.
1674F Homozygous and hemizygous deletion CNV detection from exome sequence in a Mendelian disease cohort. T. Gambin.
1675W Detection, validation and visualization of copy number variations in targeted panels without matched normal samples using next generation sequencing data. R. Gupta.
1676T CNValloc: a Bayesian approach for identifying copy unit alleles of CNVs from population-scale high-throughput sequencing data. T. Mimori.
1677F BAM Consensus: Copy Number Data Analysis for Targeted Panel NGS. A. O'Hara.
1678W A Multiple Feature Approach for Robust and Accurate Structural Variation Discovery for Whole Genome Sequencing Data of Varied Designs. L. C. Xia.
1679T molQTL, an integrated NCBI resource for molecular QTL results. N. Sharopova.
1680F Random Walk on Ontology for Rare Disorder Diagnosis. C. Wu.
1681W Virtual progeny analytics provides a multidimensional view of phenotype expectations for couples prior to conception. A. J. Silver.
1682T Geneious R9: CRISPR design tool. C. Olsen.
1683F Apollo: A Production Tested, Vertically Integrated, Operations Enhanced, Science Aware Framework for Launching Large Cohorts of Genomics Pipelines. R. Z. Castellanos.
1684W A virtuous cycle of large cohort research, personal genome analysis, and clinical deployment. N. Veeraraghavan.
1685T Multiple Testing Correction in Linear Mixed Models. J. W. Joo.
1686F Fast genome-wide assessment of the likelihood for variants being causal using only summary statistics. D. Lee.
1687W ZGP: a novel method for detecting candidate genes and pathways by integrating genome-wide association studies with pathway analysis. H. Zhao.
1688T OpenCB: a scalable and high-performance platform for big data analysis and visualization in genomics. J. Coll.
1689F Global expression patterns and key regulators in epithelial to mesenchymal transition. P. Parsana.
1690W In silico validation of allelic imbalance by assessments of SNP arrays, whole-exome sequencing and haplotype matching. S. Sivakumar.
1691T Identification of possible pleiotropic genetic variants using ClinVar and hospital discharge data. A. Donahue.
1692F GRIPT: A novel method to identify disease causing genes in a cohort of patients using next generation sequencing data. L. Zhao.
1693W SNP-Chip Sibling Ranker: Using SNPChip Data to Inform Next Gen Sequencing Choices. B. N. Pusey.
1694T miRge: A rational, ultrafast, multiplexed method of processing small RNA-seq data for microRNAs. A. S. Baras.
1695F Nonparametric tests for differential expression in paired tumor-normal microRNA data with imputation-induced dependence. A. A. Suyundikov.
1696W SPARS: Sequencing-based pipeline for annotating novel small non-coding RNAs. P. P. Kuksa.
1697T Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes. J. B. Leader.
1698F Text-mined phenotype annotation and vector-based similarity improve automated classification of Mendelian phenotypes. J. R. Saklatvala.
1699W A Coalescent-Based Shotgun Sequence Simulator for Evolving Microbial and Tumour Cell Populations. K. Liao.
1700T Accurately inferring imbalanced allele expression using logistic regression models. K. C. Olney.
1701F Online human population genetics simulator: a tool for genetics/genomics education and research. J. R. Shaffer.
1702W Benchmarking of splice isoform quantification methods for RNA sequence data. F. Aguet.
1703T Accurate quantification of allele-specific expression from single cell RNA-Seq data. K. Choi.
1704F derfinder: Software for annotation-agnostic RNA-seq differential expression analysis. L. Collado-Torres.
1705W SplineAdjust: Correcting length bias in differential expressionanalysis of RNA-Seq data. L. Wang.
1706T Reveel2: an efficient and accurate method for large-scale population genotyping from low-coverage sequencing data. L. Huang.
1707F SplicER: A novel analytic scheme for the analysis of Splicing Efficiency in RNA-seq data. L. Simon.
1708W Pleiotropic Variability Score: Quantifying Phenomic Associations of Genetic Variants. M. A. Badgeley.
1709T A generalized non-parametric genotype caller using an EM-like Algorithm. T. Benaglia.
1710F AIPS: Ancestry Inference of Subpopulations using Scores from Principal Component Analysis in Genome-Wide Association Studies. J. Byun.
1711W Processing microarray data using alternative annotations through the Bioconductor oligo package. B. Carvalho.
1712T Gaussian processes for medical time-series extrapolation and event prediction. L. Cheng.
1713F Realistic simulation of mutations for improving mutation assessment. A. D. Ewing.
1714W Evolutionarily Derived Networks to Inform Disease Pathways. B. E. Graham.
1715T Rapid Generation of Illumina Infinium Genotyping Release Data. S. M. L. Griffith.
1716F Integration of Bina RAVE for genomic data analysis at the Center for Inherited Disease Research. K. N. Hetrick.
1717W Efficient approach to correct read alignment for pseudogene abundance estimates. C. J.-T. Ju.
1718T Ferret: a user-friendly Java tool to extract data from the 1000 Genomes Project. S. Limou.
1719F GAMETES 2.0: Expanding the complex model and data simulation software to generate heterogeneous datasets, custom models, and quantitative traits. J. H. Moore.
1720W Gene: a gene-centered information resource at NCBI. T. Murphy.
1721T BioBin: A comprehensive tool for the biologically-inspired binning and association analysis of low frequency variants in sequence data. A. Okula.
1722F Geneious R9: a bioinformatics platform for biologists. K. Qaadri.
1723W Novel Approach for Correction of Cell-Type Heterogeneity Improves Power of Epigenome-Wide Association Studies. E. Rahmani.
1724T Network-assisted Method of Genome-wide DNA Methylation Association Studies in Cancers. P. Ruan.
1725F Comparison of preprocessing methods for the Luminex xMap® technology. A. Schillert.
1726W LAMPLINK: An additional function for PLINK to detect statistically significant genetic interactions. A. Terada.
1727T Calcordance: A Genotyping Concordance Tool. B. D. Tibbils.
1728F A web portal for rapid imputation of summary statistics in association studies. J. N. Torres.
1729W A new ‘front’ in rule-based data mining for complex, heterogeneous, and noisy association analyses. R. J. Urbanowicz.
1730T A new change-point model based method for copy number variation detection. F. Xiao.
1731F Varpipe: Whole Genome Variant Analysis in Minutes. A. Yao.
1732W FASTQuick: Comprehensive real-time quality assessment of ultra-high-throughput sequence data. F. Zhang.
1733T Identifying the underlying causal variants in associated regions in multiethnic meta-analysis. A. B. Zhu.
1734F Challenges in variant annotation for clinical genomic testing. J. Yen.
1735W Improving the annotation of splice-disrupting loss-of-function variants. D. P. Birnbaum.
1736T Sequencing depth of coverage as a quality control metric in whole exome sequencing fails to identify multiple regions in which variant calling and genotyping cannot be accurately performed. A. Naik.
1737F Genotype Imputation Informed by both Kinship and Linkage Disequilibrium. R. Wasiolek.
1738W Heterogeneity of Exome Methodology Causes Variability in CNV Predictions. C. S. Hong.
1739T Comparison of a Literature Search Algorithm and Curated Publication Database with the Literature Content of Other Locus Specific Databases. L. Esterling.
1740F Augmenting public databases with ultra-deep clinical targeted sequencing data. E. A. Evans.
1741W From genes to functional elements - enriching RefSeq annotation of the human genome. C. M. Farrell.
1742T Curation of reference sequence (RefSeq) standards to support clinical applications and basic research. K. Pruitt.
1743F n1n2TrackAnnotator: Software for detection and annotation of tracks comprising user-defined two different nucleotides in genome sequence . H. N. Singh.
1744W A Bayesian test to identify variance quantitative trait loci. B. Dumitrascu.
1745T An improved infrastructure and user interface for the NHGRI-EBI Genome-Wide Association Study (GWAS) Catalog. J. A. L. MacArthur.
1746F Meta-analysis of Complex Diseases at Gene Level by Functional Regression. Y. Wang.
1747W Churchill 2.0: Making the Ultra-Fast Analysis Pipeline for Clinical and Population-Scale Genomics Faster, More Efficient, and More Comprehensive. B. Kelly.
1748T NCBI resources for taking advantage of the GRCh38 reference genome assembly. V. A. Schneider.
1749F High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of Japanese references and its application on Steven-Johnson Syndrome and Narcolepsy with cataplexy. S. Khor.
1750W PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. O. J. Buske.
1751T NCBI’s database of Genotypes and Phenotypes: dbGaP. M. Feolo.
1752F Development of a bioinformatics application for the assessment of genetic risk of complex diseases. K. L. Valdés.
1753W An empirical recombination for demographic inference and IDB detection. T. Y. Wang.
1754T Smart multiple testing correction in eQTL studies. D. B. Duong.
1755F Kaviar: a comprehensive public catalog of human variant and genotype frequencies. T. Farrah.
1756W Single Sample Imputation from Next Generation Sequencing (NGS) Exome data can improve genotypes in low-coverage regions. H. Sicotte.
1757T Genetic and clinical predictors for asthma risk assessment among children in Taiwan. J. Tseng.
1758F A cloud based in-silico research platform for disease genomics: G-DOC Plus. K. Bhuvaneshwar.
1759W Can functional data assess genetic risk? A polygenic risk score approach. M. Butkiewicz.
1760T Polycomb Repressive Complex 2 epigenomic signature defines age-associated hypermethylation and gene expression changes. M. Dozmorov.
1761F Population scale human genome analysis on the cloud. J. Fitch.
1762W Functional long-range regulatory interactions harbor co-occurring ancestry specific variants. D. L. Gibbs.
1763T Network-based meta-analyses of multiple gene expression profiles with BMD variations in females. H. He.
1764F AnthOligo: Automated design of hybridization oligonucleotides for region-specific extraction of large contigious DNA fragments. P. Jayaraman.
1765W miR-96 targets a network of transcription factors and cell cycle regulators associated with prostate cancer progression. M. D. Long.
1766T Examining lost reads to survey the microbiome and immune components of the human body across 43 human sites from 175 individuals. S. Mangul.
1767F The feasibility test of fetal fraction estimation in targeted sequencing using fragment size in the case of Duchenne Muscular Dystrophy (DMD). J. Park.
1768W Predicted effect of single nucleotide polymorphisms affecting skin/hair coloration and/or 4-6 KHz hearing loss in young adults on secondary protein structure of melanocortin-1 receptor (MC1R). C. B. Pudrith.
1769T Carrier Risk Estimation using Single Nucleotide Polymorphism-based Measures of Relatedness. R. Shraga.
1770F Childhood Asthma Clusters Reveal Different Clinical Characteristics and Gene Signatures. M. W. Su.
1771W Reducing Off-Target Rate in Targeted Sequencing. L. Teng.
1772T Pathway Based Targeted Sequencing and Meta-Genomic Analysis of Preterm Birth. A. Uzun.
1773F Determine the contribution of genomic structure variation to the etiology of Tourette syndrome using whole-exome sequencing. Y. Zhang.
1774W Accelerating pancreatic cancer drug screening by leveraging genomics to select better in vitro models. R. Kusko.
1775T Using genome-wide genotyping and genome-wide gene expression profiles to perform integrative analyses of neutrophilic asthma. C. H. Tsai.
1776F Detecting the influence of genetic variants on personality. K. Wolffhechel.
1777W Diagnostic Role of Exome Sequencing in Immune Deficiency Disorders. S. E. Brenner.
1778T OMIM at 50: the nexus for knowledge on human genes and genetic disorders. A. Hamosh.
1779F Investigation of rare variants in complex disorders by using pooled DNA sequencing. J. Wang.
1780W Distribution of unique sequences in the human genome. K. Misawa.
1781T Modular transcriptional repertoire, network community structure, and microRNA target analyses in thymic tissue of Down syndrome infants. C. A. Moreira-Filho.
1782F Longitudinal prediction of the infant gut microbiome with dynamic Bayesian networks. M. J. McGeachie.
1783W Structural and functional investigation of pathogenic mutations of IL10RA gene by computational methods. B. Babajan.
1784T Forecasting a renal prognosis of IgA nephropathy using machine learning. H. Lee.
1785F Identification of genetic interactions involved in Dyslexia pathogenesis. N. Karbalai.
1786W Systematic and integrative analysis of a gene-set involved in prostate cancer: a bioinformatics study. J. Pani.
1787T Implications for cell type-specific transcriptomics in the developing human brain from next-generation sequencing of subcellular RNA fractions. A. J. Price.
1788F A computational protein phenotype prediction approach to analyze the deleterious mutations of human med12 gene. R. Elango.
1789W Diagnostic sequencing in mosaicism and heteroplasmy: allele detection and base calling by graph analysis. S. Bang.
1790T Morphling: a likelihood based Mobile Element Insertion (MEI) caller for whole genome sequencing data. S. Chen.
1791F Benchmarking well known bioinformatics aligners and variant callers using the Pilot Genome (NA12878) and Ashkenazim Father-Mother-Son trio. A. B. Diallo.
1792W A realistic simulation for benchmarking germline and somatic mutation detection with long read sequencing. B. Lau.
1793T Fast and accurate variant calling of thousands of human genomes for clinical applications. G. A. Lunter.
1794F Whole read overlap assembly accurately detects structural variants now in GRCh38. A. Mangubat.
1795W A comprehensive genomics resource for assessingvariant calling accuracy. M. Mohiyuddin.
1796T Utilizing the Genome Analysis Toolkit’s (GATK) CalculateGenotypePosteriors to refine sequencing genotype calls based on external population and trio information. E. Pugh.
1797F Comparison of alignment strategies for allelic expression imbalance. C. K. Raulerson.
1798W Decision Tree Machine Learning Approach to Identify Clinically Actionable Copy Number Events. S. Shams.
1799T Modeling Pseudomonas DNA Integrations into Stomach Adenocarcinoma. K. B. Sieber.
1800F SNooPer: a machine learning-based method for somatic variant identification from next-generation sequencing. J.F. Spinella.
1801W Toward assembly-based variation discovery from highly divergent regions. S. Tian.
1802T SuperVario: a Common Repository for Variant Data. A. S. Wenocur.
1803F Analysing the technical sensitivity of indel detection for molecular diagnostics. N. Whiffin.
1804W ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly. R. Yang.
1805T ConVarCal: A Reliable and Robust Platform for Next-Generation Sequencing Variants Identification. Y. Zheng.
1806F A comprehensive SomaticSeq workflow to prioritize biologically relevant somatic mutations in cancer. L. T. Fang.
1807W Identification of novel tumor suppressor candidates in familial cholangiocarcinoma using sequencing-based Megabase-scale haplotypes from germline and cancer genomes. S. Greer.
1808T Towards reliably detecting structural variants with nanopore sequencing. A. L. Norris.
1809F Finding the fastest route to the right answer: optimizing detection of mutations, copy number changes, and loss of heterozygosity in a single sequencing assay. B. Peter.
1810W Next-Generation Sequencing Carrier Screen for Alpha Thalassemia Identifies Both Common and Rare Variants. J. R. Maguire.
1811T Confirming Variants Discovered by Next Generation Sequencing (NGS) with Sanger Sequencing Using Innovative Bioinformatics Tools. E. H. Schreiber.
1812F Detecting Single Exon Deletions in Clinical Whole Exome Sequencing. T. Chiang.
1813W BioNano nanochannel-based genome mapping can detect large pathogenic CNVs on chromosome 22q11.2 and describe genome architecture in humans. R. R. Haraksingh.
1814T panelcn.MOPS reaches clinical standards as a CNV detection tool for targeted panel sequencing data. V. Haunschmid.
1815F iPsychCNV: A robust method for copy number variation detection on dried blood spots. J. H. Thygesen.
1816W The NIH Undiagnosed Diseases Program approach to prioritizing variants from genome-scale sequencing. D. R. Adams.
1817T A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. F. Miya.
1818F Trans-ethnic analysis of complex traits: analysis approaches by the Population Architecture Using Genetics and Epidemiology (PAGE) II Study. S. Rosse.
1819W Use of whole genome sequence analysis following uninformative exome sequencing to uncover potential causal variants in siblings with interstitial lung disease. B. A. Ozenberger.
1820T High speed, low cost processing of WGS data in Alzheimer’s disease patients along with integrative analyses enables novel insights into risk mechanisms. N. D. Beckmann.
1821F Utilization of PacBio long-read sequencing in comprehensive genomics. H. Doddapaneni.
1822W Integrative calling of short indels encompassing a wide spectrum of tandem repeats via fuzzy left-right alignment. H. M. Kang.
1823T Mitigating Batch Effects in Whole Genome Sequencing. J. Tom.
1824F Challenges and approaches to genotyping large biobank projects. T. Webster.
1825W Description Extractor: Automated HGVS-recommended sequence variant description. P. E. M. Taschner.
1826T Accuracy of Variant detection in Next-generation sequencing: a comparison between exome and RNA seq. l. trotta.
1827F Genotype Imputation Using Sparse Partial Least Squares Analysis. H. Koh.
1828W De novo and somatic indel variant analysis of whole genome and exome capture sequencing experiments with Scalpel. H. Fang.
1829T Platinum Genomes: A comprehensive package for assessing variant calling performance on GRCh37 and GRCh38. E. Fritzilas.
1830F Enforcing high quality variant calling in large scale whole genome sequencing. Z. Huang.
1831W A Bayesian framework for de novo mutations calling in nuclear families. Q. Wei.
1832T Resizing N-Base Gaps in the Human Reference Genome. Z. Dzakula.
1833F Characterization of the microDNome and its impact on the differential sensitivity to cancer treatments. P. Mehanna.
1834W Updates in the human reference genome assembly (GRCh38). T. Rezaie.
1835T A Single-Tube NGS Library Prep Workflow Integrating Enzymatic Fragmentation Results in High Yields and Low Sequencing Bias. S. Liu-Cordero.
1836F TruSeq Rapid Exome: A new improved exome enrichment strategy using a mutant transposase. D. Schlingman.
1837W Missing coverage of ACMG genes in clinical exome and genome sequencing. R. L. Goldfeder.
1838T De novo assembly of a diploid Asian genome. Y. Guo.
1839F Initial characterisation of 125 whole-genome sequenced trios from four ethnic groups in the Gambia. Q. S. Le.
1840W Comparison of exome and genome sequencing platforms for the complete capture of protein coding regions. S. H. Lelieveld.
1841T The International Genome Sample Resource: Beyond the 1000 Genomes Project. X. Zheng-Bradley.
1842F De Novo Assembly of the First Human Diploid Genome with Single-molecule Sequencing for Asian Genome Project. M. Sohn.
1843W SHIELD: an integrative gene expression database for inner ear research. J. Shen.
1844T aRrayLasso: a network-based approach to microarray interconversion. A. S. Brown.
1845F Sequencing File Mover: A Tool for the Management of Sequencing Data. K. A. Duerr.
1846W A flexible pipeline that extracts full ClinVar data set. X. Feng.
1847T An integrated RNA and DNA approach to unravel genetic regulation in cancer. V. Hedatale.
1848F The PhenX Toolkit: A Genomic Resource for Collaborative and Translational Biomedical Research. W. Huggins.
1849W Interpreting a migraine GWAS using gene expression in healthy human brain. S. M. H. Huisman.
1850T Deploying a next-generation informatics infrastructure for genomic medicine: the Ohio State University and Ohio Supercomputer Center experience. D. D. Kinnamon.
1851F Sequence and structural variability at the whole population scale for the Influenza Virus type A. G. Mazzocco.
1852W Integrating coding variants and regulatory variation to improve the power of identifying disease-associated genes in complex human diseases. A. Mezlini.
1853T Integrated database and knowledge base for genomic prospective cohort study in Tohoku Medical Megabank toward personalized prevention and medicine. S. Ogishima.
1854F Phoenix Web: Presenting Relevant Lab Data and Receiving Feedback from Outside Sources. A. M. Sanchez.
1855W Integrating Big Data to Make Biological Sense of Statistical Models. S. Verma.
1856T RAPiD - An Agile and Dependable RNA-Seq Framework. Y. Wang.
1857F Piloting Methods for Integrating Neuroimaging and GWAS Data in Bipolar Disorder Studies. H. Cao.
1858W Accessing genomic evidence for clinical variants with new NCBI services. S. Sherry.
1859T A visual semantic similarity guided approach to variant prioritization and discovery in genome-wide diagnostics. R. James.
1860F Tracking data provenance at the ENCODE DCC. E. T. Chan.
1861W Facilitating Data Sharing through a Cloud-Based Data Platform. M. Kaganovich.
1862T A new publicly accessible resource for comprehensive recessive-disease variant curation: the GenePeeks Research Browser (GPRB). R. M. Lim.
1863F Bitmap indexing of genotyes improves functionality of an in-house distributed data query system. H. Qiu.
1864W Extending data access at the EGA. D. Spalding.
1865T An empirical evaluation of redundant annotations in common reference sources for tertiary analysis. J. Warren.
1866F Integrated analysis of germline, omic and disease data. Z. Yang.
1867W Estimating Components of Heritability Explained by Gene Expression. L. J. O'Connor.
1868T Standardized analysis and sharing of genome-phenome data for rare disease research through RD-Connect's platform. S. Beltran.
1869F Integrative longitudinal analysis of ribosome occupancy and protein synthesis during chemotherapeutic response reveals complex translational dynamics. T.-Y. Liu.
1870W Structural variation discovery in dogs using whole-genome sequencing. M. Arumilli.
1871T The Human-Mouse Disease Connection (HMDC) Portal: recent updates enabling discovery. J. T. Eppig.
1872F Homology curation at SGD: Yeast and yeast research inform genetic medicine. S. R. Engel.
1873W Applications of long read sequencing: Human cDNA sequencing on the Oxford Nanopore MinIon. S. Goodwin.
1874T Fast and computationally efficient joint genome calling using Spiral Encrypted Compression (SpEC). J. Bruestle.
1875F NGS Library Prep Methods to Achieve Comprehensive Coverage for WGS and WGBS from Low DNA Input. L. Kurihara.
1876W Performance comparison of four commercial human whole-exome capture platforms. D. Shigemizu.
1877T Evaluation of HiSeq X Ten Performance: Towards Clinical Applications. K. Walker.
1878F Accurate quantification and qualification of FFPE samples increases success rate of NGS library prep and sequencing. B. Arezi.
1879W Repair of FFPE Extracted DNA Increases Next Generation Sequencing Library Yields and Quality. F. Stewart.
1880T iDASH: a secure cloud environment for biomedical data analysis, storage and sharing. O. Harismendy.
1881F Mutations on a DNase I Hypersensitive Sites in Human lead to Tumorgenesis. W. Jin.
1882W Development of a Low Input FFPE workflow for Whole Exome Sequencing. B. Marosy.
1883T Massively parallel identification and annotation of causal 3’UTR regulatory variants. A. Biton.
1884F Towards a Standardized and Automated Workflow for Extracellular Vesicle Isolation and Characterization. C. T. Schwartz.
1885W A Multi-Ethnic Genotyping Array for the Next Generation of Association Studies. C. R. Gignoux.
1886T Simplified adapter design for sequencing the Genome-scale CRISPR-Cas9 Knockout (GeCKO) libraries on the Illumina platform. W. Wang.
1887F Enabling population-scale PCR-free whole genome sequencing. J. Abreu.
1888W Sequencing the needle in the haystack: targeted capture for forensic DNA sequencing. M. Carpenter.
1889T Producing 768 whole exomes per day with a highly optimized transposase-based library preparation protocol. A. Cheney.
1890F Evaluation of DNA sample fragmentation methods for input into library construction protocols. B. D. Craig.
1891W Sequencing-based, megabase-scale haplotypes resolve the complex genomic structure of germline and primary cancer genomes. H. P. Ji.
1892T A Novel Topo-Based Ligation Technology for NGS Library Preparation. J. Zheng.
1893F Massively parallel single nucleotide mutagenesis using reversibly-terminated inosine. G. Haller.
1894W Pushing the Limits of Small RNA-Seq with Chemically Modified Adapters. S. Shore.
1895T Improving the information content of long fragment read technology by expansion to 5,000 compartments. O. Wang.
1896F Single Tube, Whole Genome Phasing and Assembly using Bead-based Index Partitioning. F. Zhang.
1897W Sequencing the B-cell and T-cell repertoire. M. Karaca.
1898T High quality library construction and reliable quantitation with NEBNext reagents. E. Yigit.
1899F A recombination-based technology in Escherichia coli for cloning large and specific human DNA sequences. L. Brunelli.
1900W Unique molecular indexes to remove PCR bias in bisulfite sequencing. I. lee.
1901T Rapid extraction of high yield, high quality DNA from tissue samples. D. O'Neil.
1902F Pan-microbial detection using Axiom® Genotyping Solution from Affymetrix. P. Rack.
1903W Automation of Micro RNA and Total RNA Purification from FFPE using the Beckman Coulter Agencourt FormaPure Kits and Biomek liquid handler. B. Lee.
1904T Targeted SMRT® Sequencing and Alternative Splice Detection of cDNA using Roche NimbleGen SeqCap Enrichment. D. Raterman.
1905F Improved sequencing and transcript detection utilizing an RNase H-mediated ribosomal RNA depletion method. D. Sanjai.
1906W Isolation and processing of 1000s of single cells for genomics applications using Nanowell Arrays. M. Srinivasan.
1907T High-Throughput, High-Precision, Single-Cell Gene Expression Analysis Using a New BD FACS™ Cell Sorter. X. Wang.
1908F Integrated DNA and RNA sequencing of the same cell. J. He.
1909W Novel Luminex assay for Telomere Length measurement does not show Well Position Effects like qPCR. M. G. Kibriya.
1910T Fusion Gene Detection and Gene Expression Analysis of Circulating RNA in Plasma. J. Gu.
1911F FlightDeck: a self-service web-portal for reproducible genomics research in the Cloud via Docker container. J. Kim.
1912W Web Tool to Guide Submission to ClinVar. M. J. Landrum.
1913T Ingenuity Variant Analysis, leveraging the Knowledge Base and HGMD®, achieves over 30x enrichment in biologically relevant variants from whole genome and exome sequence data from patients with rare disease. S. Shah.
1914F Impact of Genetic Variation on Three Dimensional Structures and Functions of Proteins. R. Bhattacharya.
1915W Simultaneous Quantification of HDR and NHEJ Alleles Induced by Genome Editing Using ddPCR. J. Berman.
1916T Correcting a dysfunctional splicing site of the HLA-DRB1 gene from CTD-2510D15 bacterial artificial chromosome (BAC) using the recombineering method. K. C. Chen.
1917F Long range phasing of cardiac disease genes using new long read sequencing technologies. A. Dainis.
Clinical Genetic Testing
1918W Development of a Target Capture-Based Multi-Gene Next Generation Sequencing Assay for Detection of Variants in Solid Tumors. R. Kanchi Ravi.
1919T CancerDIRECT: Targeted enrichment of cancer-associated genes from FFPE samples. K. Patel.
1920F Development of research genetics panel of 28 genes known to be associated with Primary Ciliary Dyskinesia (PCD) using Ion Torrent Technology. M. A. Zariwala.
1921W Clinical Whole Exome Sequencing from Dried Blood Spot Identifies Novel Genetic Defect Underlying Asparagine Synthetase Deficiency. A. Abhyankar.
1922T Sherloc: Evaluation of a Scalable Score-based Implementation of the ACMG 2015 Clinical Variant Interpretation Guidelines. M. Anderson.
1923F Development of Next Generation Sequencing Based Genetic Diagnosis and Screening Panel for Hereditary Periodic Fever Syndromes. T. Avsar.
1924W A custom-designed next generation sequencing panel detecting extremely low-level mosaic mutations in overgrowth syndromes. F. Chang.
1925T Analysis of sample multiplexing in massively parallel sequencing of the human clinical exome. J. Devaney.
1926F Augmenting clinical exomes with low pass genome sequence to identify copy number variation. M. O. Dorschner.
1927W Multi-ethnic APOL1 G1 and G2 allele frequencies and clinical validation of a personalized medicine APOL1 genotyping assay for non-diabetic chronic kidney disease risk assessment. A. M. Fedick.
1928T To Confirm or Not Confirm, That is the Question: A Rigorous Approach to Evaluating the Importance of Sanger Confirmation of Clinical NGS Findings. S. Lincoln.
1929F Classification of truncating variants in the 3’ end of genes requires a detailed analysis of C-terminal protein structure and function. C. Perreault-Micale.
1930W Clinical validation of a NGS based in vitro diagnostic (CE-IVD) kit for targeted detection of actionable gene rearrangements in lung cancer specimens. J. Schageman.
1931T Non-ceruloplasmin-copper involvement in Alzheimer’s disease and Mild Cognitive Impairment. R. Squitti.
1932F Whole Exome Sequencing for Molecular Diagnosis of Chinese Patients with Rare Genetic Disorders. J. Wang.
1933W Strategies for calculating variant confidence by combining sequencing results. N. Chennagiri.
1934T CLIP-Cap: Combined Long-Insert Paired-End and Capture Sequencing for precise and comprehensive analysis of complex genomic rearrangements. C. Purmann.
1935F Next-generation sequencing-based genetic testing of malignant hyperthermia. H. Yeh.
1936W An integrated method for extraction of high-molecular-weight DNA and preparation of genomic sequencing libraries using agarose gels. C. Boles.
1937T Accessing the Full Spectrum of Polymorphisms in HLA Class I & II Genes without Imputation for High Throughput Disease Association and Evolutionary Research. S. Ranade.
1938F Comparison of third-generation sequencing with Sanger for HLA haplotyping in the context of a clinical study. E. Palescandolo.
1939W Chromosomal microarray as a clinical diagnostic test for undiagnosed rare disease. H. Kim.
1940T Analysis of genetic variation and haplotypes of CYP2D6 amplicons by long-read nanopore DNA sequencing. M. A. Kennedy.
1941F Newborn Screening for Spinal Muscular Atrophy. W. Hwu.
1942W CYP2D6 genotyping with the PacBio RSII using multiplex targeted long amplicon sequencing. S. J. White.
1943T Mutation screening of the SLC26A4 gene in Brazilian non-syndromic sensorineural prelingual deaf individuals. S. C. S. Carvalho.
1944F Is Sanger Sequencing Still the Gold Standard? T. F. Beck.
1945W A 4,500 Gene, Short-turn-around-time, NGS Neonatal Intensive Care Diagnostics Panel. S. Dames.
1946T Clinical applicability of direct-to-consumer exome analysis. J. Vengoechea.
1947F Effect of Formalin Fixation on Targeted Sequencing and Genomic Analysis in Cancer. R. K. Alla.
1948W Defects in TANGO2 cause episodic muscle weakness, rhabdomyolysis and cardiac arrhythmia. J. A. Rosenfeld.
1949T Copy number variation detected by CMA- A review of 2000 cases. Y. Hadid.
1950F Contributions of microarray data to the molecular diagnosis in 5700 consecutive clinical whole-exome sequencing (WES) cases. W. Bi.
1951W Next-generation sequencing and the molecular diagnosis of newborns in the neonatal intensive care unit. H. Daoud.
1952T Clinical exome sequencing: accelerating the pace of diagnosis and gene discovery for improved patient management. C. Eng.
1953F Diagnostic Exome Sequencing (DES) provides a diagnosis for 23% of adult patients. K. D. Farwell Hagman.
1954W Clinical Diagnostic Yield for Autism and X-Linked Intellectual Disability Mutation Detection by Targeted Panels versus Whole Exome Sequencing: the GGC Experience. J. Lee.
1955T Clinical Exome Sequencing as a First-Line Molecular Diagnostic Test for Mendelian Disorders. H. Lee.
1956F Establishing the next generation sequencing based genetic testing for pathological jaundice related diseases. H. Li.
1957W Data re-analyses lead to improved molecular diagnosis rate in clinical whole exome sequencing (WES): experience in 5,700 cases. P. Liu.
1958T Genetic predisposition of human herpes virus associated lymphoproliferative disorders. H. Liu.
1959F Sample ID Quality Control and Methodological Improvements for NGS Gene Panels. J. M. Marqués.
1960W A Quality Assurance Framework for Supporting a Clinical NGS Laboratory. S. Marshall.
1961T Deciphering the best DNA extraction method for massively parallel sequencing of the human clinical exome. B. Meltzer.
1962F Detection of small size CNVs (< 20 genes) in patients with epilepsy and related disorders. L. Meng.
1963W Prenatal diagnosis of fetal akinesia deformation sequence caused by mutations in KLHL40. X. Tian.
1964T Diagnosing skeletal disorders in the next generation sequencing era: lessons learned from skeletal disorder panels on 175 patients. Y. Xue.
1965F When the Gold Standard is supplanted by Platinum: Analysis of the reliability of Sanger sequencing compared to that of Next-Generation Sequencing. A. S. Zare.
1966W Exon-level arrayCGH identifies novel multi-exon copy number variants in the TTN gene in patients with dilated cardiomyopathy. O. D. Cano.
1967T Broadening the mutational spectrum of Cornelia de Lange syndrome: identification of four novel HDAC8 deletions including the first report of a deletion in mosaic state. M. Helgeson.
1968F Success of next generation sequencing usage for adults and newborns affected with neuromuscular and skeletal disorders. K. M. Rocha.
1969W Gross deletion of TSPAN12 detected in patients with familial exudative vitreoretinopathy. J. Song.
1970T Whole Exome Sequencing and Whole Mitochondrial Genome Sequencing for the Molecular Diagnosis of Mitochondrial Disorders. R. Bai.
1971F Impact and implementation of benchmarking frequency thresholds for variant filtering in clinical diagnostics. M. C. Dulik.
1972W The Genome Clinic in Geneva: development of an efficient and patient-friendly diagnostic application of NGS. E. B. Hammar.
1973T Pre-clinical cancer: an example of how genomics could reshape the prognostic paradigm. E. G. Seaby.
1974F Prevalence of incidental findings of potentially actionable variants in exome chip in the CHARGE consortium. M. K. Puurunen.
1975W Exome sequencing is an efficient method for the molecular characterization of rare Mendelian disorders. A. E. Bale.
1976T An integrated approach to genetic diagnosis: Genomic research and clinical care at the TGen Center for Rare Childhood Disorders. A. M. Claasen.
1977F Lessons from Clinical Exome Sequencing in the Montana Genetics Program. A. F. Elias.
1978W Utility and limitations of exome sequencing as diagnostic tool for bilateral sensorineural hearing loss. V. Jayaraman.
1979T Clinical Exome Sequencing Experience in 4866 Consecutive Cases. J. Juusola.
1980F Exome sequencing as a diagnostic test to establish the molecular cause in renal disorders. D. Lugtenberg.
1981W Improved Sensitivity and Rapid Confirmation of Variants via Orthogonal Sequencing of Exomes. J. Thompson.
1982T Experiences with the dissemination of secondary findings by diagnostic exome sequencing. H. G. Yntema.
1983F Laboratorial diagnosis of the Fragile X syndrome: a fast, reliable and effective methodological approach supporting the Genetic Counseling services. G. Molfetta.
1984W Clinical implementation of in silico gene panel testing for clinically heterogeneous disorders using exome sequencing. R. K. Basran.
1985T Analytical validation of a saliva collection and DNA extraction protocol for a 25-gene hereditary cancer panel. J. Cassiano.
1986F Performance of ACMG variant classification guidelines within and across 9 CLIA labs in the Clinical Sequencing Exploratory Research (CSER) Consortium. G. P. Jarvik.
1987W Bias has no place in exome sequencing. K. B. Pechter.
1988T Cytogenomic and molecular refinement of STRC and CATSPER2 deafness-infertility syndrome deletion breakpoints. L. Shi.
1989F Novel compound heterozygous LIAS mutations cause glycine encephalopathy. Y. Tsurusaki.
1990W Case series of colorectal cancer patients with BRCA1/2 mutations: Finding actionable genes in patients with atypical presentations. K. Vikstrom.
1991T Whole genome sequencing as a clinical diagnostic tool for heterogeneous Mendelian disease. J. M. Ellingford.
1992F Genome versus exome sequencing: Is WGS the better WES? K. Oexle.
1993W Diagnostic Exome Sequencing Identifies Alterations in the Newly Characterized Gene, COQ4, Expanding the Phenotypic Spectrum. M. Tsang.
1994T Exome sequencing of patients with primary immunodeficiencies; translational genomics with direct clinical implications. P. Arts.
1995F Expanding the phenotypic and mutational spectrum of DYRK1A – a rare cause of intellectual disability and microcephaly. A. Knight Johnson.
1996W A family with X-linked creatine transporter deficiency diagnosed by whole exome sequencing. M. Mori.
1997T Application of multigene panel sequencing in prolonged QT interval patients with no mutation detected in KCNQ1, KCNH2, and SCN5A. S. Seo.
1998F A population-based genomic study of inherited metabolic diseases detected through newborn screening. K. Park.
1999W Comprehensive analysis of genes associated with cobalamin deficiency, methylmalonic aciduria and homocystinuria by clinical next generation sequencing identifies novel mutations. J. Zhang.
2000T The usefulness of array as a clinical diagnostic tool in patients with congenital malformations and developmental delay: Brazilian experience in 162 children. E. A. Zanardo.
2001F Improved methods for diagnosing mitochondrial disorders using whole exome sequencing. I. A. Barbosa.
2002W Novel Mitochondrial Variant Identified in Leber Hereditary Optic Neuropathy Patients. S. Lee.
2003T Identification of known and novel mutations in Mitochondrial Disorders. J. Sheth.
2004F Paternity Reclaimed: Ancestry Testing Reveals a Unique Case of Congenital Chimerism. K. M. Sheets.
2005W Improved diagnostic yield of neuromuscular disorders applying whole exome sequencing for patients arising from consanguineous population. Z. Fattahi.
2006T Pitfalls of multiple ligation-dependent probe amplification in DMD gene mutation analysis. M. Kim.
2007F Informative results of exome sequencing in 10 out of 20 cases/sibships. M. Smith.
2008W The Diagnostic Yield of a Multi-Gene Panel for Neuromuscular Disorders with Special Consideration to Variants of Unknown Significance. A. S. Lindy.
2009T Allele-specific digital PCR to differentiate CYP2D6 heterozygous duplication events. P. A. Hegerich.
2010F Resolving false positive CYP2D6 genotype results: CYP2D7 variation is the culprit. A. K. Riffel.
2011W Characterizing CGG footprint at FMR1 gene by TP-PCR: Implication in diagnosis. S. Agarwal.
2012T Increased identification of CFTR mutations using an expanded panel of validated pathogenic mutations. W. Sun.
2013F Hemoglobin Depletion Increases Sensitivity of Next Generation Sequencing-based Transcriptome Profiling. D. Munafo.
2014W Association analysis of genetic variants with type 2 diabetes in a Mongolian population in China. H. Bai.
2015T Identification and characterization of aberrant splicing variants using a generic approach. A. J. Bergsma.
2016F A comprehensive analysis of ultrastructures of erythrocytes from patients with Glucose-6-Phosphate Dehydrogenase deficiency by atomic force microscopy. F. Zishui.
2017W Comprehensive Glycomics Analysis by MALDI TOF/MS in Human CSF. X. Li.
2018T Detection of Large Rearrangements in a Pan-cancer Gene Panel using Next Generation Sequencing. D. Mancini-DiNardo.
2019F Prognostic prediction of prostate cancer metastasis and biochemical recurrence. A. Pearlman.
2020W Identification of a novel homozygous COL18A1 mutation causing Knobloch syndrome using homozygosity mapping and whole exome sequencing. A. Haghighi.
2021T Screening for mutations and variants in FSHR gene in women with Premature ovarian failure in a South Indian cohort. M. Sujatha.
2022F Development and clinical validation of a novel diagnostic test for Mucin1 kidney disease. B. Blumenstiel.
2023W NGS-based Carrier Screen for Gaucher’s Disease Calls Variants and Detects Large Rearrangements Between GBA and GBAP1. K. M. D'Auria.
2024T Rapid Capture Methods for Comprehensive Carrier Screening. D. Muzny.
2025F Comparison between HPV Oncotect and Nuclisens EasyQ assay and its potential role in detecting preneoplastic lesions of the cervix. F. Papa.
2026W Dried blood spot RNA sequencing (DBS-RNA-Seq): A novel approach for the identification of circulating biomarkers. A. Wolfe.
2027T Using a new multiplex CNV analysis technology detecting SLC26A4 deletions and duplication in 84 Chinese subjects with enlarged vestibular aqueduct. H. Yuan.
2028F TINA modified primers allow faster PCR. S. M. Echwald.
2029W Exome sequencing in children with life-threatening community-acquired Pseudomonas aeruginosa infection. J. Fellay.
2030T Molecular inversion probe based re-sequencing in a clinical setting – highlighting BRCA1 and BRCA2. A. Hoischen.
2031F Achieving high-sensitivity for clinical applications using augmented exome sequencing. A. Patwardhan.
2032W Rapid screening of severely ill newborns and infants using whole genome sequencing. R. J. Sinke.
2033T Initial evaluation in constitutional cytogenomics of CNVkit, an algorithm for genome-wide copy number determination using on- and off-target reads in whole exome sequencing data. A. Wiita.
2034F Clinical whole exome sequencing reveals previously unreported likely pathogenic variants in the SCN8A gene in patients with early onset epileptic encephalopathy with intellectual disability. F. Vetrini.
2035W Development of a high throughput workflow for CFTR mutation screening. T. Hartshorne.
2036T Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. J. L. Larson.
2037F Standardizing the quality QC of any DNA isolation to safeguard the success of genetic testing. T. Martens.
2038W Genetic testing supply and demand: Tracking growth and competition in the genetic testing marketplace. T. A. Murphy.
2039T “Ion Ampliseq Custom Arrhythmia Panel” comprising 68 cardiac channelopathy genes is a gold standard for the rapid and sensitive detection of novel genes and variations in Long QT (LQT) syndrome. B. Turkgenc.
2040F Genetic and epigenetic analysis of amyotrophic lateral sclerosis (ALS) patients in the Slovenian population. M. Ravnik-Glavac.
2041W The most variable region of the genome: The next generation of HLA-typing platforms. J. Kaur.
2042T DIRECT targeted library preparation for Illumina Sequencing. C. Hendrickson.
2043F PCR based target enrichment for NGS panels and Sanger variant confirmation. S. Lefever.
2044W Comprehensive Genetic Exploration of Skeletal Dysplasia Using Targeted Exome Sequencing. J. Bae.
2045T Discovery of small RNA biomarkers of hypertension through next-generation sequencing of urinary exosomes. A. R. Davis.
2046F Maternal capillary blood: A new source of circulating cell-free fetal DNA for noninvasive prenatal testing. R. Primacio.
2047W Capturing phenotype data and standardising recruitment for rare diseases in the Genomics England 100,000 genome project. A. D. Devereau.
2048T HLA variant identification techniques in African Populations. M. O. Pollard.
2049F Impact of reasonable genetic testing in prevention of rare genetic disorders. F. Hashemi-Gorji.
2050W Application of Serum miRNA Signature for Minimization of Immunosuppression and Diagnosis ofRejection Following Liver Transplantation. B. Keating.
2051T A protein glycosylation screen to diagnose rare genetic disorders and unravel disease mechanisms. M. Davids.
2052F Identification of SPINK 5 mutations in consanguineous families confirms the diagnosis of Netherton syndrome. A. Mirzaei.
2053W The spectrum of pathogenic and likely pathogenic variants observed in individuals with melanoma undergoing inherited cancer testing. D. Farengo-Clark.
2054T Identification of pathogenic/likely pathogenic variants in individuals reporting a personal history of both breast and colorectal cancer. M. Marshall.
2055F Massive analysis of cancer genes in high cancer risk patients by next generation sequencing. J. Puig-Butille.
2056W Association between single nucleotide polymorphism of BMP5 gene and risk of knee osteoarthritis. RN. Srivastava.
2057T Are signs of obesity and hyperphagia still relevant for the clinical suspicion of Prader-Willi Syndrome? Evidence from a novel quantitative clinical diagnostic model. L. Cordeiro.
2058F Exon targeted array CGH for identification of clinically relevant small sized, intragenic CNVs. A. Patel.
2059W Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN. A. Almeida de Jesus.
2060T How to translate next generation sequencing (NGS) from research to clinical practice? G. Barcia.
2061F Secondary Finding Preferences in Whole Genome Sequencing: experiences with a large developmental delay cohort. K. East.
2062W ClinGen Actionability Working Group: Clinical Actionability in the context of Secondary Findings in Adults and Application to the ACMG 56. J. E. Hunter.
2063T Implementation of Genetic Sequencing into Clinical Practice: The Personalized Diabetes Medicine Program. J. W. Kleinberger.
2064F The diagnosis of neuronal ceroid lipofuscinosis by next generation sequencing eye and seizure panels. E. C. Lisi.
2065W Genetic Diagnosis for Deafness in a Large Clinical Cohort. C. M. Sloan-Heggen.
2066T Detection of 3 novel mutations in the GAA gene in 3 iranian families with glycogen storage disease type II. S. Tabei.
2067F Pilot data from the Veritas Genetics myGenome Project. J. V. Thakuria.
2068W Diabetic Ketoacidosis in Vanishing White Matter. H. Alamri.
2069T Clinical Rapid Whole Exome Sequencing Experience. D. Copenheaver.
2070F Next-Generation Sequencing test within a neurologic region of interest leads to diagnosis of RYR1-related disorder for 36-year-old female after three decades. P. Gerrol.
2071W Clinical results from a pediatric neurological region of interest using an orthogonal NGS approach to identifying variants. E. J. White.
2072T De novo mutations in prenatal trios with abnormal ultrasound findings detected by high coverage NGS panel analysis. H. Dai.
2073F Rare Genomics Institute research initiative provides non-profit patient services enabling deep insights into rare disease conditions through genome sequencing and cloud collaboration. C. J. Lin.
2074W Diagnosis of autosomal dominant polycystic kidney disease (ADPKD) by full gene sequencing and MLPA. M. Procter.
2075T Review of PRPH2 (RDS) mutations found in patients enrolled in the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®). M. J. Reeves.
2076F Development and implementation of a targeted next generation sequencing (TNGS) strategy for the molecular diagnosis of intellectual disability. S. Hanein.
2077W Comprehensive genetic testing of 74 probands with Waardenburg syndrome using massively parallel sequencing. j. Cheng.
2078T Comprehensive molecular analysis of the ABCA4 gene in Stargardt disease patients of the German population. H. L. Schulz.
2079F First report of molecular genetics diagnosis of Niemann Pick disease in North-West of Iran. E. Abedini.
2080W SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive syndrome characterized by microcephaly, intellectual disability, seizures, and hearing loss. K. G. Monaghan.
2081T The Emerging Need for Genetic Testing in Clinical Psychiatry. C. G. Bouwkamp.
2082F Does this patient need to be tested for Lynch Syndrome? Assessing the reliability of family history for ascertainment. H. C. Cox.
2083W Clinical and radiographic indications for genetic testing of spondylocostal dysostosis. M. Lefebvre.
2084T Exome sequencing in intellectual disability and epilepsy. J. Halvardson.
2085F UPD1 in a Newborn with Multiple Congenital Anomalies. A. R. Seman.
2086W Genetic investigation of cystic fibrosis transmembrane regulator mutations in a cohort of consecutive patients candidate for assisted reproductive techniques. C. Vaccarella.
2087T Detection of Translocations in Clinical Cancer Samples using Targeted NGS Data. S. Agrawal.
2088F Report of a patient with cystic fibrosis and homozygosity for the Q1100P CFTR variant. K. E. Singh.
2089W Development and Implementation of a Bioinformatics Framework to Address Pseudogenes in Clinical Whole-Exome Test. K. Cao.
2090T Comparing gene panel and augmented exome tests using a gold-standard dataset. G. Chandratillake.
2091F Microcephaly panel testing reveals an exon-level CASK deletion in a patient with a previously inconclusive whole exome sequencing result. A. Shanmugham.
2092W DFNB4 linkage analysis and PDS mutation detection in Iranian patients with deafness. N. Yazdanpanahi.
2093T Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar. S. M. Harrison.
2094F Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children. M. S. Meyn.
2095W Clinical diagnostic pipelines at the Exome Laboratory in Baylor Miraca Genetics Laboratories. Y. Ding.
2096T Interpreting Exome Data Using Selection-Based Prioritization. J. T. Shieh.
2097F Successful linkage analysis in classical phenylketonuria families followed by direct sequencing and mutation detection. S. Tabei.
2098W Genetic variation in the SMAD3 gene is associated with knee osteoarthritis in north Indian population. A.ch. Sharma.
2099T Miniaturized next-generation sequencing (NGS) library preparation and quantification - ultra low sample input and ultra low cost libraries. S. Vaezeslami.
Prenatal, Perinatal and Reproductive Genetics
2100T Fetal Jugular Lymph Sacs - What is the Significance? D. Chitayat.
2101F Prenatally diagnosed aqueductal stenosis (triventricular dilation) and postnatal/autopsy findings. Report on 100 cases. R. Jobling.
2102T A study of X and Y chromosomal variations in a large fertile child-bearing-age population. P. Kezmarsky.
2103F Maternal copy number variants are a significant reason for false positive noninvasive prenatal test results. D. I. Chudova.
2104T Comprehensive Analysis of Clinical Performance of HarmonyTM Prenatal Test. R. Stokowski.
2105F Population screening of 328,886 individuals reveals ethnic disparities in guidelines and cumulatively greater risk for severe recessive disease than for Down syndrome or neural tube defects. I. S. Haque.
2106T Next Generation Sequencing Assay Accurately Determines Carrier Status for Spinal Muscular Atrophy. X. Wang.
2107F Establishing criteria for the return of results from genome sequencing for the purpose of carrier screening. K. A. B. Goddard.
2108T Etiological Evaluation of Adverse Reproductive Outcome: A Large Study from South India. A. Jyothy.
2109F Whole-genome amplified DNA from neonatal dried blood spot samples produces high-quality exome-sequence data. M. V. Hollegaard.
2110T An assessment of parental perspectives, understanding, and responses to fetal whole exome sequencing. N. Vora.
2111F All FMR1 premutations are not equal: impact of frequency and repeat distribution on risk for fragile X syndrome. G. A. Lazarin.
2112T High-efficiency biomarker extraction from dried blood samples using Adaptive Focused Acoustics (AFA™). U. Geigenmuller.
2113F Prostacyclin Synthase (PTGIS) interacts with nonsteroidal anti-inflammatory drugs (NSAIDs) to Protect from Miscarriage. M. J. Bray.
2114T Association of G1733A polymorphism (rs6152) in androgen receptor gene with Idiopatic Recurrent Pregnancy Loss in Mexican women. A. Porras.
2115F Pattern of cytogenetic aberrations in Tunisian couples with recurrent miscarriage. R. Frikha.
2116T Interleukin 1 Beta Gene Polymorphisms in Women with Early Onset Preeclampsia. A. Venkateshwari.
2117F Hypertension as a risk factor for uterine fibroids: a Mendelian randomization analysis. K. S. Tsosie.
2118T Role of Kallmann Syndrome Gene NELF in the JAK-STAT Pathway. E. Ko.
2119F Immotile Short Tail Sperms (ISTS) defect: Genetic evaluation in-depth of alterations in essential candidate genes. A. Mohseni Meybodi.
2120T Genetic basis of obstructive azoospermia: Whole exome sequencing provides new insights into congenital absence of vas deferens. O. Patat.
2121F Molecular analysis of Y-chromosome micro-deletions and its relationship with male infertility in Zanjan, Yazd and East Azerbaijan province of Iran. M. r. Ranjouri.
2122T Evaluation of the expression of AR and SOX3 genes in sertoli cells of azoospermic patient. M. Sabbaghian.
2123F Low levels of PAPP-A as a sole parameter predicting high risk of aneuploidy in the fetus in pregnant women younger than 35 and NT <3mm. A. Singer.
2124T Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. M. J. van Belzen.
2125F Analytical Validation of a Novel Next-Generation Sequencing Based Pre-implantation Genetic Screening Technology. M. Umbarger.
2126T Characterization of the mtDNA bottleneck in human preimplantation embryos and zebrafish germline and non-germline cells. A. Otten.
2127F Preimplantation genetic diagnosis for male infertility with chromosomal rearrangement. C. C. Huang.
2128T Prenatal Caffey Disease: A Tale of Two Siblings. M. S. Saleh.
2129F Prenatal presentation of an inherited chromosome 6p22.3 microdeletion, encompassing the JARID2 gene. M. Biderman Waberski.
2130T Prenatal whole genome SNP array: frequency and relevance of incidental diagnoses in parental samples. L. Govaerts.
2131F Thrombocytopenia Absent Radius (TAR) Syndrome due to compound heterozygosity for 1q21.1 microdeletion and an hypomorpic mutation in RBM8A gene. D. Barel.
2132T “It was the last thing on my mind": couples’ experiences and needs for support following the diagnosis of a fetal abnormality in pregnancy. S. A. Metcalfe.
2133F Methionine Synthase (MTR) and maternal risk factor for Down syndrome child: A case-control study. A. Kaur.
2134T Prenatally initiated workup for Desbuquois dysplasia type 1: The utility of SNP-microarray in identifying a candidate gene. K. Rock.
2135F Successful array CGH analysis of fetal cells derived from maternal blood: A step towards cell-based NIPT. A. Breman.
2136T Women in Western Australia; knowledge, understanding and attitudes towards the potential for population Non-Invasive Prenatal Testing (NIPT) for de novo single gene disorders. S. M. Long.
2137F Demonstration of a Subchromosomal Noninvasive Prenatal Testing Method Using Genome-Wide Sequencing. R. C. Tim.
2138T Contribution of NIPT in case of ultrasonc malformations: more than 2 years of French experience. G. Viot.
2139F First Report of Prenatal Diagnosis for Severe Genodermatoses in Egypt. K. Amr.
2140T 5-tiered Scheme for Classification of High-Resolution Oligo-SNP Array Results in Invasive Prenatal Diagnosis: Findings from 3,091 Clinical Cases. A. Anguiano.
2141F Prenatal diagnosis in Huntington disease and reproductive choices. H. Bouchghoul.
2142T Needs and views of Quebec pregnant women on personalized reproductive medicine. G. Lapointe.
2143F Frequency of Total Uniparental Isodisomy and Triploidy in a Series of Oligo-SNP array analyses of Products of Conception and Prenatal Diagnosis. B. T. Wang.
2144T Integrated analysis of a longitudinal preterm birth cohort reveals significant inflammatory candidate genes. M. K. Veerapen.
2145F Association of fetal genotypes with cytokine protein expression levels and preterm birth. R. F. Clark.
2146T Molecular genetic study to elucidate complex molar pregnancy: differential diagnosis of an unusual case of hydatidiform mole with fetus. A. C. M. Malinverni.
2147F Maternal genome-wide association study identifies a fasting glucose variant associated with offspring birth weight. B. Feenstra.
2148T Low folate levels and MTHFR polymorphism C 677T in case mothers of chuldren with neural tube defects and control mothers of Pakistani origin. N. Nauman.
2149F MED12 mutations in uterine leiomyomas: clinical implications. HR. Heinonen.
2150T Transcriptional profiling analyses of cell free RNA in the amniotic fluid with pregnancy of intrauterine growth retardation. D. H. Cha.
2151F Pathway-based analysis of preeclampsia genome-wide association data suggests hematologic and immune pathways are integral to disease pathogenesis. K. J. Gray.
2152T Natural Conception in a Patient with 46,XX/46,XY Chimerism: A Case Report. L. N. Parsons.
2153F Delineating Epigenetic Dynmaics in Spermatogonial Stem Cell during Neonatal Development at Single-Base Resolution. TL. Lee.
2154T Sexual dimorphism in placental telomere length over gestational age. SL. Wilson.
Ethical, Legal, Social and Policy Issues in Genetics
2155T High-security DNA bank accounts to protect and share your genetic identity. J. Den Dunnen.
2156F Illumina Methylation Array Information in Public Databases May Be Used to Impute Alcohol and Tobacco Consumption Histories on Potentially Identifiable Individuals. R. A. Philibert.
2157T Consent, confidentiality, and information-sharing in genetic medicine: ways forward for the UK and beyond. S. Dheensa.
2158F Patients’ attitudes towards collecting and sharing genetic information for clinical care versus research in an integrated healthcare system from participants and nonparticipants of the Kaiser Permanente Research Program on Genes, Environment, and Health. J. Harris.
2159T Attitudes about data sharing in the age of personal genome sequencing: Preliminary findings from the PeopleSeq Study. M. H. Helm.
2160F Harmonizing Privacy Laws to Enable International Biobank Research. M. Rothstein.
2161T Can an online decision-aid help parents of children with treatment-resistant epilepsy make whole exome sequencing decisions? S. Adam.
2162F DECIDE: Development of an interactive tool to guide parents’ choices regarding genomic incidental findings results. J. M. Friedman.
2163T e-consultative informed consent for a social research in health among teenagers with Neurofibromatosis type 1. F. Duplain-Laferrière.
2164F Incidental findings; figures and hurdles of informed consent in a diagnostic setting. M. Kriek.
2165T High participation and engagement rate in a systematic hospital-based genomic medicine research project with broad consent. V. Mooser.
2166F Family tree and ancestry inference: is there a need for a 'generational consent'? S. Wallace.
2167T Consenting in the time of genomic sequencing: Experiences from the BabySeq Project. C. M. Weipert.
2168F Context Matters. Attitudes, Experiences and Meanings of Consent to Stakeholders within Newborn Screening. K. W. Miller.
2169T Ethical, Legal, and Social Implications of Personalized Genomic Medicine Research: Current Literature and Suggestions for the Future. S. Callier.
2170F Direct to consumer genetic testing: Exploring the ethical and legal dilemmas and considering regulation in Europe. A. C. de Paor.
2171T Regulating Genome Editing Technologies: Towards a Proportional Approach. R. Isasi.
2172F Ethical and Legal Issues Associated with the Use of Genomic Information in the Context of Pandemic Influenza. M. Lewis.
2173T What are the clinical and socioethical recommendations of researchers and physicians about inherited chromosomally integrated human herpesvirus 6? V. Noel.
2174F Attitudes of genetics professionals and anthropologists toward race, ancestry, and genetics: results of a national survey. J. Yu.
2175T An Unreasonable Lack of Accommodation? GINA and the Legal Issues of Using Human Genetic Information in Workplace Infectious Disease Control. T. C. Bailey.
2176F Crafting Tools to Engage the Public in Newborn Screening Policy. R. Ryan.
2177T Advanced cancer patients’ attitudes regarding incidental findings arising from tumor genomic profiling. J. G. Hamilton.
2178F Interest in and outcomes with return of individual genetic research results for inherited susceptibility to breast cancer. A. R. Bradbury.
2179T Assessment of Current Practice and Athletic Trainers’ Knowledge of the NCAA Sickle Cell Trait Screening Mandate. M. Crandall.
2180F Is there an ethical and/or legal obligation for healthcare providers to re-contact former patients in light of new genetic findings? D. Carrieri.
2181T Reporting secondary whole genome sequencing variants in pediatrics: Challenging relational best interests. R. Z. Hayeems.
2182F My46 usability and preferences for results among African Americans. S. M. Jamal.
2183T Content and delivery preferences for genome sequencing results among young breast cancer patients. K. Kaphingst.
2184F Genomic Sequencing of Newborns: Exploring Psychosocial Risks to Families. S. Pereira.
2185T “We all get dealt our cards”: Participant Responses to Return of Secondary Results from Exome Sequencing. H. K. Tabor.
2186F Public Attitude Toward Disclosure of Incidental Findings in Genomics Research. Z. Yamagata.
2187T Clinical Annotation of Sequence Variants in a Population-based Study of African Americans: Implications for report of incidental findings. A. A. Adeyemo.
2188F Intentions to receive individual genetic research results and incidental findings from genomic studies among research participants in a familial cancer research program. J. T. Loud.
2189T Whole Genome Sequencing Analysis and Reporting for Ostensibly Healthy Individuals in a Research Study. M. D. Linderman.
2190F What is the psychological impact of personal genome sequencing on ostensibly healthy individuals? The HealthSeq project at six-month follow-up. S. C. Sanderson.
2191T Developing a provider facing genome sequencing report: Results of key informant interviews. J. L. Williams.
2192F Parental Views of Newborn Screening Using Next Generation Sequencing Technologies: Implications for Policy. G. Joseph.
2193T Ethical, legal and social implications of the application of genomics to infectious disease prevention, treatment and outbreak control. R. Dvoskin.
2194F Rwandan patients with disorders of sex development: Diagnostic challenges and behavior problems in African context. L. Mutesa.
2195T Incidental pathology findings in the Genotype Tissue Expression (GTEx) program. L. Carithers.
2196F Next-generation counseling: increased efficiency and high patient satisfaction utilizing web technology and telephone for post-test counseling and education in carrier and inherited cancer screening. M. Gilats.
2197F Design, implementation and outcomes of a “Psychiatric Genetics for Genetic Counsellors (PG4GC)” workshop in the UK and creation of the International Society for Psychiatric Genetic Counselling (ISPGC). K. McGhee.
2198F The Individualized Medical Genetics Center: Facilitating Systematic Integration of Genetic Testing into Patient Care. L. Medne.
2199F Examining Preparedness Among Hispanic Women Undergoing Genetic Cancer Risk Assessment. B. Nehoray.
2200F Exploring the process of decision-making about participation in genetic research on mental illness. J. Austin.
2201F Genetic counselling in a wound care unit: Unexpected contribution to conventional diagnosis strategies by drawing a pedigree to diagnose hereditary sensory and autonomic neuropathy type 2 (HSAN2) in female patient. M. O. Cevik.
2202F An automated drawing tool of pedigree, intending to use for genome-cohort studies. A. Shimizu.
2203F The unintended birth of a second child with a genetic disorder in the same family – potential culprits and solutions. M. Bembea.
2204F “It’s been a rollercoaster”: Evaluating prospective father’s experiences with abnormal prenatal microarray results. L. Pilchman.
2205F Individual perceived health status and health values: Factors influencing self-initiated genome testing, risk perception and health actions in ill versus healthy persons. C. Farrell.
2206F Families At Risk: Long-term Impact of Huntington’s Presymptomatic Genetic Testing. D.JH. Mathews.
2207F “Something extra on chromosome 5”: Couples’ understanding of positive prenatal chromosomal microarray analysis (CMA) results. B. A. Bernhardt.
2208F A double edged sword: being a BRCA1/2 mutation carrier and a man with prostate cancer. E. K. Bancroft.
2209F A UK-wide national audit of genetic testing in retinoblastoma suggests that transition care should be a priority for medical genetics. A. C. Foster.
2210F Disclosing genetic risk for coronary heart disease: perception of self-responsibility and reaction to risk disclosure in a randomized clinical trial (from the MI-GENES investigators). S. Brown.
2211F Family advocacy and support in ultra-rare genetic diseases: Example of OPHN1 mutations. M. C. Towne.
2212F Considerations for genetic testing of the partners of individuals with autosomal dominant cancer susceptibility syndromes that cause a severe recessive phenotype. R. L. Bennett.
2213F Population Screening for Hereditary Cancer: Opinions from the General Public. L. A. Cross.
2214F Measuring Awareness and Identifying Misconceptions About Genetic Counseling Services and Utilizing Television to Educate. D. Goldberg.
2215F Evolution of Genetic Counseling in Genomic Medicine-Experiences from Mayo Clinic Center for Individualized Medicine. K. Hunt.
2216F NCBI Hackathons: Community Driven User Centered Design of Software to Interface with Genomics Datasets. B. Busby.
2217F Best Practices in Genetic Cancer Risk Assessment: Delivery Models and Barriers in Community Settings. I. Solomon.
2218F The GEC-KO Website: Genetics education for primary care providers. J. C. Carroll.
2219F The Role of Graduate Year and Training in Cancer Genetics Knowledge in Primary Care Physicians. V. Chan.
2220F Blended Learning for Primary Care Providers in Cancer Genetics Management. K. Reed.
2221F A co-ordinated national approach to workforce transformation: Health Education England's Genomics Education Programme. A. Seller.
2222F Pharmacogenomics Assessment in a Current Internal Medicine Practice. C. R. Vitek.
2223F Workshop in Applied Genomic Medicine. A. D. Gilbert.
2224F GTR, ClinicalTrials.gov, and ClinVar: NCBI resources that improve access to information about research testing. W. S. Rubinstein.
2225F Knowledge and attitudes of nurses about a population-based education and carrier screening program for recessive diseases in Cree communities of Northern Quebec. J. Le Clerc-Blain.
2226F Residents as Teachers and Leaners: Transitioning Traditional Seminar Series to Team-Based Learning to Prepare Genetics Residents to be Teachers. D. S. Regier.
2227F Developing Online Learning Modules for Medical Genetics Residency Training. T. Wang.
2228F Development of a competency-based genomic education resource for physicians. K. W. Weitzel.
2229F Touching Triton: building student understanding of common complex disease risk. A. Hott.
2230F Considering Genetics Education Through the Lens of Cognitive and Developmental Psychology. M. Peffer.
2231F An educational program on human genetics in Japan, KYOTO MODEL: By developing a MANGA cartoon media that can enhance importance of awareness of family health history. Y. Hiraoka.
2232F Genetics Home Reference: Educating the General Public about Precision Medicine. H. Collins.
2233F Personal Genetics Education Project: A multifaceted and interdisciplinary approach to public engagement about personal genetics. M. Gelbart.
2234F Public attitude towards governance of consumer targeted genetic testing and secondary use for research in Japan. K. Muto.
2235F Documentary on thalassemia: a public awareness initiative. I. Panigrahi.
2236F Development of an interactive online clinical whole genome sequencing educational and engagement tool. E. Ramos.
2237F People's attitude toward genetic testing for children and informed consent/assent in Japan. I. Ishiyama.
2238F Overcoming Technical Barriers to Incorporate Molecular Structures in Teaching with Molecule World™ on the iPad and iPhone. TM. Smith.
2239F Teaching meiosis brings together concepts from four different areas. D. L. Newman.
2240F Quick Medical Genetics: A YouTube channel for clinical genetics education. P. M. Boone.
2241F Learning across the lifespan: a team-based approach to genomics education for high school students to practicing professionals. E. Edelman.
Health Services Research
2242W Costs of clinical decision support for genomic tests may be greater than the cost of initial genomic testing. P. C. Mathias.
2243W A cost effective in house method for HIV genotyping – circumventing the use of costly kits for developing countries. M. Mitne-Neto.
2244W Attitudes towards receiving genetic information on susceptibility to the effects of arsenic exposure in rural Bangladesh. B. Pierce.
2245W Cost-Benefit Analysis of Genomic Testing Vs. Standard Genetic Testing in Inpatient Population. A. Khromykh.
2246W Annotating rare diseases with HPO terms: a new Orphanet service to refine phenotype-genotype correlations. A. Olry.
2247W Thalassemia in Egypt: Paving the way for prevention and cure. G. Y. El-Kamah.
2248W Views of patients regarding universal Lynch Syndrome screening. T. Hyams.
2249W A SMARTer way to set genomic test reports on FHIR. M. S. Williams.
2250W Evaluation and Optimization of a Universal Lynch Syndrome Screening Program at Geisinger Health System. A. Kulchak Rahm.
2251W Qualitative Assessment of the Veterans Health Administration Telegenomic Clinic Implementation. B. Lerner.
2252W Genomics and personalized medicine in primary care: a professional engagement study using a novel, theory-informed workshop approach. B. J. Wilson.
2253W Optimizing the Design of a Population-Based Reflex Testing Program for Lynch Syndrome in Ontario: Health Care Providers’ Perspectives. Y. Bombard.
2254W Cohort profile: Taiwan Biobank (TWB) for the future of next generations. C. N. Hsiung.
2255W Benefits and Limitations of a Multidisciplinary Approach to Individualized Management of Cornelia de Lange Syndrome and Related Diagnoses. K. January.
2256W Integrating genomic medicine across a healthcare system. S. L. Hill.
2257W Medical Transition Checklists for Mobile Applications. J. A. Dixon.
2258W Assessing provider barriers to implementation of genetic testing for common disease risk in the GUARDD (Genetic testing to Understand and Address Renal Disease Disparities) study. N. S. Abul-Husn.
2259W Next-generation sequencing identifies miRNAs in peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. S. Y. Gebreab.
2260W Family history taking in pediatrics: it’s much more than just a checklist. L. Tessier.
2261W Mitochondrial Disease Patients’ Motivations and Barriers to Participate in Clinical Trial. Z. Zolkipli Cunningham.
2262W Geriatrics disease-burden from genetics point of view. B. Ganguly.
2263T Plasma Amino Acid and Urine Organic Acid Profiles of Filipino Patients with Maple Syrup Urine Disease (MSUD) and Correlation with their Neurologic Features. M. D. Chiong.
2264F Whole exome sequencing identifies a novel frameshift variant causing familial hypomagnesemia with secondary hypocalcemia: a case report. M. K. Azim.
2265T The natural history protocol on congenital disorders of glycosylation. L. Wolfe.
2266F Toward identification of the pathogenic cell type driving calcification in pseudoxanthoma elasticum. S. G. Ziegler.
2267T Congenital Protein Losing Enteropathy: An inborn error of lipid metabolism due to DGAT1 mutations. H. Pri Chen.
2268F Progression of behavioral and CNS deficits in a murine model of chronic neuronopathic Gaucher Disease. Y. Sun.
2269T Behavioral and cholinergic pathway abnormalities in male MPS IIIB mice. S. Le.
2270F Rare non-synonymous variations in the human ferroportin iron transporter gene (haemochromatosis type 4): the quest for causal mutations. G. Le Gac.
2271T A Zebrafish Knockout of Argininosuccinate Lyase Separates Ureagenic and Biosynthetic Functions. O. A. Shchelochkov.
2272F Insights into the pathophysiology of propionic acidemia provided by metabolomic analysis. M. J. Miller.
2273T Musculardystrophy and Mitochondrial ca+2 up take disorder. W. M. Eyaid.
2274F 1-13C-Propionate Oxidation as a Measure of Hepatic Methylmalonyl-CoA Mutase (MUT) Function in Methylmalonic Acidemia (MMA). I. Manoli.
2275T Gaucher Type 2 Neural Models from Human Induced Pluripotent Stem Cells Cindy E. McKinney, Ph.D., Megan Corrigan-Cummins, OMS, Katherine Baumgarner, M.S. Stem Cell Lab, Edward Via College of Osteopathic Medicine (VCOM-CC) and Gibbs Research Institute, Spartanburg, SC. C. McKinney.
2276F Clarifying the Phenotype of NGLY1 Deficiency, the First Congenital Disorder of Deglycosylation. C. Lam.
2277T Hyperammonemia due to carbonic anhydrase VA deficiency: a case report. H. H. C. Lee.
2278F Efficacy of an Electronic Medical Record Tool for Improving Detection of Hyperammonemia in Neonates: A Two-Year Data Review. S. A. S. Vergano.
2279T Development of a new MRM-MS assay for the diagnosis of Morquio Syndrome in Dried Blood Spots. C. Cozma.
2280F Cerebrotendinous xanthomatosis in an adult with soft tissue masses andprogressive neurological decline. A. Alhariri.
2281T Real-world experience in the diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2): Report from an international collaboration of experts. N. Miller.
2282F Inborn errors of metabolism in the molecular era: Will biochemical analyses became a second-tier test? L. S. A. Costa.
2283T Screening for mucopolysaccharidosis disorders in children and young adults presenting with bilateral hip disease. G. Scharer.
2284F Exome sequencing to identify the genetic bases for lysosomal storage diseases of unknown etiology. J. Xing.
2285T Niemann-Pick disease type B: a not rare diagnosis in patients referred for investigation of Gaucher disease type 1. R. Giugliani.
2286F Comprehensive screening of urine sample for metabolic disorder using gas chromatography/mass spectrometry. B. Varughese.
2287T Clinical metabolomic profiling for the diagnosis of neurometabolic disorders associated with seizures and global developmental delay. T. Donti.
2288F Known and novel ATP6 mutations in the mitochondrial genome: Delineation of the phenotypic spectrum and functional effects. R. D. Ganetzky.
2289T Extremely skewed X-inactivation leading to a manifestation of mucopolysaccharidosis type II in a female patient. L. Dvorakova.
2290F Genetic investigation of Maple Syrup Urine Disease in Iranian population. M. Abiri.
2291T Unique presentation of LHON/MELAS overlap syndrome caused by very rare mutation in MTND5. T. Honzik.
2292F Identification of a novel deletion in the PEX1 gene resulting in partial PEX1 protein function in patients with Zellweger Spectrum Disorder. E. Di Pietro.
2293T International Fabry Disease Genotype/Phenotype Database: Phenotypic classification of 46 novel pathogenic GLA mutations for Type 1 “classic” or Type 2 “later-onset” phenotype by clinical, in vitro expression, and in silico analyses. D. O. Doheny.
2294F Molecular and functional characterization of mutations in congenital adrenal pyperplasia patients (CYP21A2 gene): Functional genomics. R. Prasad.
2295T Severe Fetal Onset of Glycogenosis type IV (Andersen disease) Presenting as Hydrops Fetalis – Report of a Case. H. Alrukban.
2296F Evidence of inflammation in organs of male reproductive tract of the MPS I mouse model. V. D. Almeida.
2297T A new disorder of O-glycosylation due to a mutation in the X-linked OGT gene is associated with microcephaly, epilepsy, abnormal sleep architecture, intellectual disability and hypothyroidism. A. Huq.
2298F The common MERRF mutation in a three generation pedigree with multiple symmetric lipomatosis. S. Seneca.
2299T A distinct type of 3-methylglutaconic aciduria due to a mutation in the Translocase of Inner Mitochondrial Membrane 50 (TIMM50) gene. F. Serajee.
2300F Molecular genetic study and urine analysis of Japanese patients with cerebral creatine deficiency syndromes. H. Shimbo.
2301T Characterizing the genetic basis of Leigh Syndrome, the most common mitochondrial disorder affecting children. N. J. Lake.
2302F PUS1 and COX10 mutations in three Czech patients with cytochrome c oxidase deficiency and hematological symptoms. M. Tesarova.
2303T Clinical and molecular characterization of glutaric aciduria type 1 patients from India. P. M. Tamhankar.
2304F A synonymous splice site variant in MTHFR gene causing hyperhomocysteinemia with severe neurological dysfunction that was successfully reversed with early initiation of medical therapy. D. Reed.
2305T Prevalence and severity of non-motor manifestations associated with parkinsonism in patients with Gaucher disease and GBA1 mutation carriers. G. Lopez.
2306F Cognative assessment of patients with type 3 Gaucher disease. E. Wiggs.
2307T Prospective Natural History Study of Mucopolysaccharidosis Types IIIA and B (Sanfilippo). K. L. McBride.
2308F Autopsy findings in Gaucher disease indicate variability in response to therapy. D. K. Borger.
2309T Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP): Clinical, Biochemical and Molecular Characterization of North American Patients. M. Balwani.
2310F Novel report of phosphoserine phosphatase deficiency presenting in an adult. H. M. Byers.
2311T Pancreatitis and Maple Syrup Urine Disease. J. Duis.
2312F Phenotypes and genotypes of 35 cases with betaketothiolase deficiency in a Vietnamese referral center. K. Nguyen.
2313T Mice lacking Cox10 in T-lymphocytes recapitulate the immune phenotype of a cohort of patients with primary mitochondrial disease. P. J. McGuire.
2314F Novel TATA Box Promoter Mutation in SUCLG1: Expansion of the Phenotype. J. L. Fraser.
2315T Inborn errors of metabolism spectrum of MS/MS target diseases in Vietnam. V. Dung.
2316F Five years of newborn screening of inherited metabolic disorders in the Czech Republic. K. Peskova.
2317T Neonatal Screening of Lysosomal Storage Diseases in a Cohort of Mexican Population. J. Navarrete.
2318F Newborn screening for mucopolysaccharidoses: A pilot study in 1276 samples. F. Kubaski.
2319T The use of next generation sequencing in metabolic disease screening and diagnosis of newborns (California NBSeq). R. L. Nussbaum.
2320F Improved quality of life with dietary interventions in a biochemically stable child with maple syrup urine disease. M. Rasberry.
2321T Neurotransmitters and Blood Phenylalanine in Phenylketonuria. S. Yano.
2322F Combination therapy in a patient with chronic neuronopathic Gaucher disease: potential positive effect of early treatment. F. Ceravolo.
2323T Strategy to assess the pharmacokinetics of a proprietary human acid α-glucosidase with high mannose 6-phosphate during its development as a potential next-generation treatment for Pompe disease. E. R. Benjamin.
2324F Diagnosis of a mild case of mucopolysaccharidosis type II (Hunter disease) in a 3-year old girl: to treat or not to treat? A. M. Laberge.
2325T Human Recombinant Arginase Enzyme: A Potential New Therapy for Arginase Deficiency. L. Burrage.
2326F Familial Hypercholesterolemia (FH): treatment of an Italian family by LDL-apheresis (LDL-a). A. Saluto.
2327T Utility of citrulline supplementation in treating hypoargininemia in children with MELAS syndrome. A. W. El-Hattab.
2328F Aggresomes formation and negative gain of function as alternative molecular mechanism in patients affected by phenylketonuria: Implications for the therapy. G. Bonapace.
2329T A Pilot Open Label Trial Assessing the Safety and Efficacy of Betaine in Patients with a Peroxisome Biogenesis Disorder (PBD) and PEX1-Gly843Asp (G843D) Genotype. N. E. Braverman.
2330F Long term follow up of 17 patients with methylmalonic acidemiafollowing solid organ transplantation. J. L. Sloan.
2331T Auditory pathway findings in Smith-Lemli-Opitz syndrome (SLOS). T. Pointon.
2332F A Replication study of 49 Type 2 Diabetes Risk Variants in a Punjabi Pakistani Population. A. Zia.
2333T Gene Expression Profiles of LPL Deficiency Reveal LPL-Independent Pathways of Triglyceride Metabolism. D. Gaudet.
2334F Novel NPC variants causing severe Niemann Pick C deficiency. K. Chao.
2335T Erythropoietic Protoporphyria: Investigation and Evaluation of Potential Pathogenicity of Ferrochelatse (FECH) Mutations in Genomic Databases. W. Qiao.
2336F Topic: Mucopolysaccharidosis type IIID (Sanfilippo syndrome type D): Initial characterization of the murine model. M. Jamil.
2337T Large scale screening for lysosomal storage disorders in minority groups. R. limgala.
2338F Whole-exome sequencing identifies ECHS1 mutations in Leigh syndrome.. M. Tetreault.
2339T Measurement of markers of urinary oxidative stress in methylmalonic aciduria, propionic aciduria and Barth syndrome. K. Victor.
2340F Can a heterozygous c.1880_1881del (p.S627fs) novel pathogenic mutation in the NDUFS1 gene cause mitochondrial Complex I deficiency? S. Yang.
2341T Evaluating Neutral Lipid and Phospholipid Contents of Lipid Droplets in Fibroblast Cells from Patients with Peroxisomal Disorders. W. Fallatah.
2342F Acute intermittent porphyria (AIP): High incidence of pathogenic hydroxymethylbilane synthase non-synonymous variants in genomic databases suggests other predisposing genetic and/or environmental factors for acute attacks. B. Chen.
2343T X chromosome inactivation in 82 female patients with Fabry disease. L. Echevarria.
Clinical Genetics and Dysmorphology
2344W Trisomy 8 mosaicism in Colombia. P. Paez.
2345T A genetic liability model explains the sex bias in neurodevelopmental disorders. A. Polyak.
2346F De novo deletion 2 (q 14.1q21.1) and association with attention deficit and hyperactivity. J. G. Pappas.
2347W 10-year-old Female with KANSL1 Mutation and First Reported Case of Normal Intelligence. C. Keen.
2348T An 8.3Mb 19p13.2p13.3 duplication associated with duodenal atresia and left ventricular noncompaction. Y. Dowa.
2349F Pallister–Killian Syndrome: Clinical and Cytogenetics Variability of five Egyptian patients. M. M. Eid.
2350W Ring chromosome 15: expanding the phenotype. H. El-Bassyouni.
2351T Puberty evolution in Jacobsen Syndrome. C. M. Jurca.
2352F A rare case with chromosome 10p15.1p11.22 duplication. E. Kirat.
2353W An extremely rare case of trisomy 8 and trisomy 21 mosaicism. K. Kozma.
2354T Genotype-phenotype correlation of an 8p complex rearrangement. L. Martelli.
2355F Breakpoint mapping by chromosome microdissection and next generation sequencing in patients with balanced chromosomal rearrangements and correlation to phenotype. M. I. Melaragno.
2356W Natural history of patients with trisomy 13 receiving pediatric intensive management. E. Nishi.
2357T Down Syndrome Resources for Clinicians and Investigators: The DS-Connect® Registry Professional Portal and an Updated NIH Research Plan. M. Parisi.
2358F A possible chromosome 9 new heteromorphic variant in a patient with phenotypic alterations. A. Perez.
2359W Perspective of Mosaic Patau Syndrome. J. Roy.
2360T The Impact of Early Hormonal Therapy (EHT) on Anthropomorphic Measurements in 47, XXY from 4 to 96 months of age. C. Samango-Sprouse.
2361F Towards the identification of 9p21.1 deletion genesis in a family with development delay. F. J. Sheth.
2362W A Predictive Model for Obstructive Sleep Apnea in Patients with Down Syndrome. B. G. Skotko.
2363T A girl with recombinant X chromosome and Turner like stigmata: report of clinical and cytogenetic findings and review of the literature. N. Yachelevich.
2364F Blood Count Alterations in Newborns with Down Syndrome: A Case-Control Study. FJ. Martínez Macías.
2365W Hexasomy for Chromosome 15q11.2q13.1. A. Tsai.
2366T Aarskog-scott(saa) with cleft lip and palate in patients from operation smile colombia; clinical description. I. Briceno.
2367F Clinical Face Phenotype Space: dysmorphology photographs to aid diagnosis of genetic syndromes. C. Nellaker.
2368W Delayed diagnosis in Turner syndrome is associated with social anxiety. C. McDougall.
2369T An adult with intellectual disability, ADHD, autistic featrues, and an interstitial microdeletion involving CNTN4. E. Chow.
2370F Expanding the clinical spectrum for 10q26.2q26.3 deletion. V. Fairchild.
2371W 11q13.4 deletion disrupting SHANK2 gene in a male with ASD and moderate ID. M. Grisolia.
2372T Further delineation of the phenotypic spectrum of ZBTB18 mutations. S. A. de Munnik.
2373F A Novel 17q24.2 Microdeletion Localized to the PRKCA Gene. B. Shayota.
2374W Primary microcephaly in a child with an increased number of prophase-like cells without MCPH1 gene mutation. S. Lala.
2375T Classical microdeletion syndromes due to chromosomal rearrangements. S. R. Menon.
2376F Developmental Delay and Skeletal Dysplasia associated with a Maternally Inherited Deletion of 3p26.3 with a phenotypically Normal Mother. A. S. Angulo.
2377W Auditory phenotype of Smith-Magenis syndrome. M. Brendal.
2378T Agenesis of the corpus callosum, developmental delay and Posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. A. Chaudhry.
2379F Behavioral features within adaptive behavior profiles: VABS Subdomain profiles in subtelomeric disorders. G. Fisch.
2380W Microdeletion at Xq13.1 causing loss-of-function of CITED1 gene in a male newborn with multicystic dysplastic kidney disease (MCDK). L. Mao.
2381T Increased Prevalence of Malignancy in Twins with 22q11.2 Deletion Syndrome. A. R. Schott.
2382F Neonatal hemolytic anemia and multiple congenital anomalies due to deletions of 5q33, 6q24, and 14q23. Y. Watanabe.
2383W Prenatal Detection By Array CGH Of GPC3 Intragenic Duplications Causing Simpson-Golabi-Behmel Type 1: Study Of Two Cases And Literature Review. C. Maftei.
2384T 5q12.1 Deletion – First Report of Transmission and Adult Phenotype. C. Bupp.
2385F Developmental Delay and Characteristic Facial Features in a Novel 7p22.3p22.2 Microdeletion Syndrome. A. C. Yu.
2386W A case of 2q33.1 microdeletion syndrome resulting from a de novo reciprocal translocation t(2;11)(q32;q13). F. Falvo.
2387T Inherited intrachromosomal Xq28 deletion involving MECP2 and Xp22.33 duplication in a patient with Rett-like phenotype. A. Nicoletti.
2388F An interstitial 2q22.3q23.2 deletion not involving ZEB2 gene in a male with Mowat-Wilson syndrome-like phenotype. F. Scionti.
2389W Chromosomal microarray testing identifies trichorhinophalangeal syndrome type I with cognitive developmental delay. J. Gilman.
2390T Deletion of KIRREL3 causes intellectual disability in Jacobsen syndrome. C. Hatano.
2391F Submicroscopic Deletions at 13q32.1Cause Congenital Microcoria. L. Fares Taie.
2392W Genetic analysis of autism spectrum disorder (ASD) based on developed diagnostic flows using next-generation sequencing (NGS). Y. Enomoto.
2393T Oro-facial-digital syndrome. (ofd), in a population from operation smile foundation in colombia. clinical, molecular and genetic characterization. j. martinez.
2394F Clinical and Molecular study of a series of 31 patients with chondrodysplasia with multiple dislocations. E. Ranza.
2395W A new multiple congenital anomaly syndrome due to a de novo variant in the ATP binding domain of FGFR2 detected by trio-based whole-genome sequencing. T. Vilboux.
2396T A Three-Year-Old with ALVES syndrome: Case Review with Further Delineation of Phenotype and Inheritance. M. Crenshaw.
2397F Reverse phenotyping of a patient with CRIPT gene mutation and further delination of the associated phenotype. B. Demeer.
2398W Whole Genome Sequencing Identifies Multiple Pathogenic Mutations in a Patient With Recurrent Infections and Multiple Congenital Anomalies. A. Fadda.
2399T PTCH gene deletion in a individual presenting holoprosencephaly associated to bilateral anophthalmia and orbital cyst. L. Bicudo.
2400F Male Newborn Presented With Hyponatremia Who Has 21-Hydroxylase Deficiency. A. Ecevit.
2401W Concomitant de novo NFIX heterozygous deletion and truncating EVC mutation escaping nonsense-mediated mRNA decay in a subject with severe intellectual disability and postnatal growth delay. D. Uehara.
2402T Macrothrombocytopenia and Developmental Delay with a de novo CDC42 Mutation: Yet Another Locus for Thrombocytopenia and Developmental Delay. K. Kosaki.
2403F Holoprocencephaly and Neural tube defects: Strange bedfellows: Is there a third and even stranger bedfellow-Heterotaxy? S. Krishnamurthi.
2404W Whole Exome Sequencing of a Syrian Family with Oral Cleft and Split Hand/Foot Syndrome Reveals Novel de novo Mutation in TP63. C. L. Simpson.
2405T Biallelic SZT2 mutations in a case with early infantile epileptic encephalopathy. A. Miyauchi.
2406F Analysis of the planar cell polarity regulator gene PTK7 in neural tube defects. Y. Lei.
2407W A six-year-old boy with compound heterozygote mutations of ERCC6 and a splice site mutation of ATRX. K. Kojima.
2408T Identification of a new mutation in C2CD3 by whole exome sequencing in an oral-facial-digital syndrome family with intrafamilial variability. S. Scheidecker.
2409F Associated non diaphragmatic anomalies among cases with congenital diaphragmatic hernia. C. Stoll.
2410W An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family. T. Tadashi.
2411T The Etiological Exploration of PHACE Syndrome. K. F. Schilter.
2412F Novel heterogenous mutation in DYNC1H1 gene in a boy with arthrogryposis and motor neuropathy. H. Alsharhan.
2413W The analysis of IL36RN mutations in subtypes of pustular psoriasis. J. Hong.
2414T Identification of a heterozygous stop-gain mutation in ASXL3 refines autism spectrum disorder diagnosis to Bainbridge-Ropers syndrome. J. C. Jacobsen.
2415F Focusing from Chronic Kidney Disease to Cystinosis: Discrepancy Between the Clinical Incidence of Cystinosis and Estimates Based on 1000 Genomes. W. Wu.
2416W Phenotype of a 23 year old male with FAM111B mutation: poikiloderma, myopathy, joint contractures, and lymphedema. M. Ganapathi.
2417T Diagnostic difficulties in a newborn with rhizomelic dwarfism, multiple intrauterine fractures and dysmorphic features due to mucolipidosis type II (MLD II) due to compound heterozygote GNPTAB mutations and an unreported heterozygote change in the SERPINF1 gene. Y. Lacassie.
2418F Clinical heterogeneity of genetically confirmed six patients with Vici syndrome. I. Hori.
2419W Juvenile Xanthogranuloma in Noonan Syndrome. M. M. Ali.
2420T GNE Myopathy in the Non-Jewish Population, a Genotype-Phenotype Correlation Study. A. Haghighi.
2421F A novel IRF6 mutation in female affected members of an Asian family with Van der Woude syndrome. E. C. Tan.
2422W Sengers syndrome: clinical investigation and identifying novel AGK mutations. H. Haghighi-Kakhki.
2423T Primordial Dwarfism associated novel POC1A mutation reveals new insights for centriole biogenesis. M. Ozen.
2424F Rare familial TSC2 gene mutation associated with atypical phenotype of tuberous sclerosis complex. S. Ben-Shachar.
2425W X-Linked Congenital Disorder of Glycosylation in a female infant due to SLC35A2 gene mutation - Expanding the clinical phenotype. A. Pandya.
2426T Evaluation of Growth Parameters in the LCRC Dataset Demonstrates Differences Based on Osteogenesis Imperfecta Subtype for All Age Groups. A. Tam.
2427F Behavioral Phenotype of Muenke Syndrome (FGFR3-Related Craniosynostosis). Y. Addissie.
2428W Böök syndrome (Premolar aplasia, Hyperhidrosis, and Canities prematura) is an Autosomal Dominant Ectodermal Dysplasia with Variable Expression. M. Hajianpour.
2429T Clinical and molecular spectrum of Noonan syndrome and other RASopathies. J. Kim.
2430F Congenital nephrosis, cerebral ventriculomegaly and heterotopias: Expanding the phenotype associated with CRB2 mutations. A. Slavotinek.
2431W Pseudoarthrosis of the tibia and retroperitoneal neurofibroma in NF1: case report and 4-year follow-up. M. Aceves-Aceves.
2432T A family with Novel MED12 Mutation Substantiates the Existence of a Fourth Recognizable Clinical Phenotype. V. Ottaviani.
2433F Intragenic CFTR micro-duplication and 5T/12TG track in a patient with non-classical cystic fibrosis. P. B. S. Celestino-Soper.
2434W Mutation in NRAS in familial Noonan syndrome: A case report. M. Wilbe.
2435T Complex Inheritance of ABCA4 Disease: Four Mutations in a Family with Multiple Macular Phenotypes. W. Lee.
2436F A boy with GNAS mutation. S. Tulgar Kinik.
2437W Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. C. J. Adams.
2438T Desmosomal diseases: the key role of dermatological features for the detection of severe subclinical cardiac involvement and for the phenotype to genotype correlation : Proposition of an algorithm. L. Polivka.
2439F Two Siblings With Congenital Hyperinsulinism. N. Muratoglu Sahin.
2440W Mutational analysis of an adult with an RNU4ATAC associated primordial dwarfism: expanding the phenotype. S. M. Kirwin.
2441T Genetic Analysis in Beta Thalassemia Minors in Certain Communities of Gujarati Population. M. V. Rao.
2442F Hemoglobin beta chain -619 base pair deletion screening of patients with high HbA2 Level. R. J. Raval.
2443W Next-generation sequencing uncovered unexpectedly high prevalence of neonatal Dubin-Johnson syndrome. T. Togawa.
2444T An unusual presentation of Schimke Immunoosseous Dysplasia. M. AlAmr.
2445F A novel, SF3B4 missense mutation, as a possible cause for Nager syndrome. C. K. Dzolang.
2446W A novel SOX9 mutation with normal male genitalia and otherwise classic campomelic dysplasia. G. C. Gowans.
2447T A novel mutation of OTX2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. M. K. Jones.
2448F A novel mutation of the TWIST1 gene in a family with Baller-Gerold syndrome without poikiloderma. T. Kaname.
2449W TWIST2 is the cause of Ablepharon Macrostomia and Barber Say Syndromes: Reascertainment of two cases lost to follow-up as keys to solving these conditions. T. Markelllo.
2450T Hutchinson-Gilford progeria syndrome: clinical and molecular characterization. H. Pachajoa.
2451F A pathogenic variant in BMPR1A results in craniofacial dysmorphism, Robin sequence, and juvenile polyposis syndrome. W. H. Tan.
2452W A new case of Kenny-Caffey syndrome type 2 with molecular confirmation. A. Wadley.
2453T Subtle Facial Dysmorphism, a Variable Phenotype and Negative 4 Gene Testing in Young Adults with Holoprosencephaly. K. Weiss.
2454F CASK mutation identified by whole exome sequencing in a patient that expands the clinical spectrum for MICPCH syndrome. J. Zhao.
2455W PNPLA6 mutations – a rare genetic cause of syndromic hypogonadotrophic hypogonadism. A. L. Frederiksen.
2456T Point mutation in the proline dehydrogenase gene (PRODH) plus a microdeletion in the proximal part of DiGeorge syndrome chromosomal region (DGCR) in juvenile onset epileptic encephalopathy – a case report. C. Lau.
2457F Mutation in TWIST2 gene and its relation to a new clinical finding - lipodystrophyc habitus - in Ablepharon Macrostomia Syndrome. E. M. S. M. M. Souza.
2458W Autosomal recessive truncating mutations of KLHL7 cause a Bohring-Opitz like syndrome. J. Thevenon.
2459T Identification of Mutation in Kelch-Like Family Member 15 Gene in a Patient with Abnormal Cortical Development and Hypergonadotrophic Hypogonadism. G. Yesil.
2460F Clinical characteristics of fragile X syndrome for genetic counseling: First reported in Thai patients. C. Charalsawadi.
2461W Mutations in the PI4KA-TTC7A-EFR3B Signaling Pathway Result in a Progressive Lethal Syndrome. R. C. Lombardo.
2462T Mutations in SEC61A1 cause autosomal dominant interstitial kidney disorder associated with anemiaand growth retardation. C. Golzio.
2463F Siblings with Harderophorpheria: Early signs mimic infantile osteopetrosis. Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing. L. Dupuis.
2464W Improved detection of FLCN mutations in patients with BHDS. J. R. Toro.
2465T A compound-heterozygous mutations in patients with autosomal-dominant Marfan syndrome. P. Cibulkova.
2466F GenIDA: an international registry of individuals affected by monogenic forms of intellectual disability or autism and a families and professionals social network, to collect medically relevant information and gene specific natural histories. J.-L. Mandel.
2467W Case report of family with Christianson syndrome and apparently novel pathogenic variant in the SLC9A6 gene. J. Moeschler.
2468T Abnormal primary dentition: A clue for the diagnosis of the SATB2-associated syndrome. M. Rio.
2469F Somatic Mosaic PIK3CA Mutations in Chinese Patients with PIK3CA-Related Overgrowth Spectrum from Hong Kong. B. Chung.
2470W A novel PITX1 mutation segregating with familial tibial hemimelia. D. Ortiz.
2471T Delivery by Cesarean Section is not Associated With Decreased at-Birth Fracture Rates in Osteogenesis Imperfecta. M. Jain.
2472F Congenital central hypoventilation syndrome mimicking mitochondrial disease. K. Rojnueangnit.
2473W Autosomal recessive Usher Syndrome and autosomal dominant retinitis pigmentosa in a Louisiana Acadian family. A. Umrigar.
2474T Parental Mosaicism in Type II Collagenopathies. N. Beck.
2475F Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. M. S. Kane.
2476W Tuberous sclerosis complex-causing mutations analyzed in a cohort of 41 Brazilian patients. L. Almeida.
2477T Gynecologic and Obstetric Issues in a Large Cohort of Patients with Hermansky-Pudlak Syndrome. M. Merideth.
2478F Novel RAF1 mutation in a newborn with Noonan syndrome phenotype. R. Zambrano.
2479W Unusual Frequency of MPS IIIC on central Colombia: probable genetic cluster? H. M. Velasco.
2480T Medical complications and functional issues in 122 pediatric patients with non-vascular Ehlers-Danlos syndrome. A. D. Kline.
2481F Novel compound heterozygous STRA6 mutations in a case of isolated anophthalmia. H. Chapman.
2482W HS6ST2 is mutated in a family with Brooks-Wisniewski-Brown syndrome. M. Miozzo.
2483T Inherited loss of function mutation in CASK causing microcephaly-pontocerebellar hypoplasia: first report. L. Pisani.
2484F Mild and Moderate Osteogenesis Imperfecta: A Retrospective Chart Review. E. Carter.
2485W Clinical and Molecular Assessment of 78 OculoAuriculoVertebral Spectrum (OAVS [MIM 164210]) patients. S. Bragagnolo.
2486T Performance of Facial Dysmorphology Novel Analysis: comparison to molecular testing-based diagnostics. L. Basel-Vanagaite.
2487F Molecular Pathogenesis of Congenital Diaphragmatic Hernia Revealed by Family Based Genetic Strategies, Next Generation Sequencing and Bioinformatics. H. Shanmugam.
2488W Fragile X syndrome and periventricular heterotopia: one or two syndromes? A. Lavillaureix.
2489T -238 Tumor necrosis factor-alpha gene polymorphism in Periodontitis patients. R. P. Mariaud-Schmidt.
2490F Complex chromosome 6 aberration in two sisters with MR and MCA derived from a maternal paracentric inversion. F. A. T. de Vries.
2491F Formation of triplications by a template switching mechanism can contribute to disease phenotype in humans beyond formation of simple copy-number gain. C. M. B. C. Fonseca.
2492F A case of partial trisomy 21q resulting from meiotic recombination of a maternal pericentric inversion. S. Jung.
2493F Clinical, cytogenetic and molecular evaluation of a phenotipically male patient with a karyotype of 46, XX but bearing an intact SRY loci: a case report. H. Bagis.
2494F High incidence of CNVs in patients with oculo-auriculo-vertebral spectrum disorders. S. Oliveira.
2495F Genome-wide association study of copy number variation in a Thai autism spectrum disorder cohort. N. Jinawath.
2496F De Novo Assembly of the Genome-in-a-Bottle Reference Ashkenazi Trio, Structural Variation Discovery and Comparison with Other Individuals by Genome Mapping. A. Hastie.
2497F Danish Central Cytogenetic Register: Population-based survival analysis of mental disorders among carriers of chromosomal abnormalities. L. Høffding.
2498F Concurrent loss of heterozygosity and mosaic deletion 12p. J. F. Mazzeu.
2499F Two sisters with similar phenotype, a shared unbalanced translocation, and discordance for a microdeletion. A. Nastro.
2500F Mosaic supernumerary marker with Y chromosome material detected by NIPT in a newborn female. V. Potluri.
2501F Molecular mechanisms of formation of insertional translocations. P. Stankiewicz.
2502F Molecular and clinical delineation of the 2p15-16.1 microdeletion syndrome. J. Levy.
2503F Is there significant evidence to associate intronic deletions in the AUTS2 gene with the typical features seen in AUTS2 microdeletion syndrome? R. E. Pyatt.
2504F Two Cases with De Novo 3q26.31 Microdeletion Reveal the Role of FNDC3B in Human Craniofacial Development. Y. Cao.
2505F A recurrent 47.5 kb deletion downstream of the SHOX gene: is it pathogenic? L. Matyakhina.
2506F Clinically Relevant Copy Number Variants Detected In Cerebral Palsy. M. J. Gazzellone.
2507F Novel genotype-phenotype correlations for exonic and intronic NRXN1 deletions. C. Lowther.
2508F The complexity of non-recurrent duplications detected by microarray: a review of 167 cases. J. Nicholl.
2509F Comparison of CNVs results in the group of the patients with autistic spectrum disorders by MLPA and aCGH – one center experience. J. Srovnal.
2510F Deciphering isolated 4q deletion syndrome cases with a focus on an inherited case of 4q35.1q35.2 deletion. N. Inamdar.
2511F Array-CGH analysis in fetuses with multiple malformations reveals 50% of cases with pathogenic deletions/duplications or variants of unknown significance. E. Di Gregorio.
2512F Unusual translocations t(2;11)(q23;q13) y t(9;14)(q12;q11.2) in acute promyelocytic leukemia. A. Corona-Rivera.
2513F A t(17;19)(q21;p13.3) involving TCF3 , a t(1;9)(p13;p13) and a 5'IGH@ abnormality in a case of adult B-cell Acute Lymphoblastic Leukemia. R. Chow.
2514F Unusual phagocytosis in a woman with a non-specific B-cell chronic lymphoproliferative disorder. M. Dominguez.
2515F An adult male presenting with concurrent plasma cell myeloma involving an IGH@/CCND1 translocation and chronic myelogenous leukemia with a variant (9;22) translocation. C. Tirado.
2516F Myelodysplasia transforming to mast cell leukemia with t(9;22): A rare occurrence. G. Velagaleti.
2517F Double trisomy (48, XXY,+ 21) in a foetus associated with Atrioventricular septal defects (AVSD) and agenesis of the corpus callosum. S. K. Bhattacharya.
2518F Severity of oro-dental phenotype in Down Syndrome based on chromosome analysis. E. Severin.
2519F Trisomy 9p. Rethore syndrome, case report. R. Silva-Cruz.
2520F Dyskeratosis congenital. A X-linked dominant. Case report. L. Bobadilla-Morales.
2521F Our experience at Children’s National Health Systems using CytoScan® Dx Assay. K. Cusmano-Ozog.
2522F Discordant Circulating Fetal DNA and Subsequent Cytogenetics Reveal False Negative, Placental Mosaic, and Fetal Mosaic Genotypes. R. V. Lebo.
2523F Disruption of the MBD5 gene by a small deletion of the 2q23.1 in a family with mental retardation and language impairment. Y. G. Oh.
2524F Clinical Characteristics of Chromosome Microarray Studies. E. Purifoy.
2525F High detection rate of clinically relevant genomic abnormalities in plasma cells enriched using magnetic-activated cell sorting from consecutive patients with multiple myeloma. S. Chan.
2526F Molecular cytogenetic analysis of recurrent chromosomal abnormalities in pancreatic cancer. D. Shabsovich.
2527F Application of fluorescence in situ hybridization (FISH) and immunohistochemistry (IHC) for detecting PTEN loss in diagnostic prostate cancer needle biopsies. J. A. Squire.
2528F Clinical features of TWIST2 heterozygous carriers in a Mexican patient with a 2q37 deletion syndrome (Albright´s hereditary osteodystrophy-like syndrome). D. E. Cervantes-Barragan.
2529F Two recurring deletions of 18p with variable expressivity of the 18p minus syndrome. K. Phillips.
2530F Cryptic deletion adjacent to the breakpoints of the t(9;22)(q34;q11) translocation in patients with chronic myeloid leukemia. C. Borjas.
2531F Clinical and molecular characterization of an infant with a 4p16.3p15.33 deletion and Xp22.33p22.31 duplication. M. E. S. Colovati.
2532F A female teenager with sporadic Williams-Beuren syndrome and a familial inv(X)(p22q22). A. Ramírez.
2533F Bilateral aniridia due to de novo deletion in 11p.1-p13 region may have resulted from HPV infction. S. G. Cevik.
2534F Unique Patterns of Allelic Imbalances Found by SNP-based Microarray: A Tale of Two Chimeras. C. A. Marcou.
2535F The importance of intragenic duplications within VPS13B in the causation of Cohen syndrome. JL. Smith.
2536F Microdeletion 15q13.2-q13.3 syndrome: case report of a patient with facial dysmorphisms, developmental delay, autism spectrum disorder and epilepsy. E. D. F. Carvalho.
2537F qPCR confirmation and follow-up testing of copy number variants identified by microarray analysis. J. Schleede.
2538F Atypical Angelman Syndrome Caused by a Familial Imprinting Center Deletion. S. S. Costa.
2539W Mutations in KIAA0586 cause lethal ciliopathies ranging from hydrolethalus phenotype to short-rib polydactyly syndrome. C. Alby.
2540W Regulation of exocrine and endocrine pancreas by ciliopathy genes. T. L. Hostelley.
2541W Uncovering the variation in phenotypes arising from mutations causing ciliopathic disorders. J. P. Whalley.
2542W Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. S. Roosing.
2543W A role for BBS4 in regulation of BDNF/TrkB signaling and hypothalamic neuronal specification. C. Leitch.
2544W The role of the BBSome in visual function during eye development and adulthood. Y. Hsu.
2545W Transcriptional and translational dynamics of cell fate specification in pluripotent stem cells define the unique biology of individual human genomes. A. Jaishankar.
2546W Atypical cadherin FAT1 is essential for optic fissure closure in mouse and zebrafish. A. George.
2547W The Gfi-Cre knock-in mouse as a tool for inner ear gene expression analysis. M. Matern.
2548W Molecular genetic characterization of TGF-β mechanism in embryonic rescue for the secondary palate with overexpression of Smad2 using genetic models. H. A. Al Omer.
2549W Modeling distal hereditary motor neuropathies in zebrafish. A. Kondo.
2550W A novel mouse model of Uveal Coloboma due to genetic rearrangement on Chr13. R. P. Alur.
2551W Normal palate development requires Prdm16 expression in the mandible, not the palate. B. C. Bjork.
2552W Mitochondrial deficiency by Gtpbp3 depletion affects further development in zebrafish. D. Chen.
2553W A Forward Genetics Approach to Discover Modifiers of Holoprosencephaly and Cleft Lip/Palate. K. A. Geister.
2554W Distinct requirement for the basal plate in the regionalization of the posterior diencephalon. B. Lee.
2555W Reeling in the Effect of Decreased Sulfate on Embryonic Development and Risk of Autism Spectrum Disorder through Disruption of slc13a1 in Zebrafish. C. G. Perry.
2556W Brain region specific roles for CHD7, the gene mutated in human CHARGE syndrome. J. M. Skidmore.
2557W B-cell CLL/Lymphoma 9-like (Bcl9l) and eye development. D. Wu.
2558W KLF14 involves in controlling inflammation in the white adipose tissue. C. Tayama.
2559W Genetic dissection of globozoospermia reveals a role for centrosomal proteins and regulation of the ubiquitin-proteasome system. E. C. Oh.
2560W Corpus callosum anomalies in fetuses: from fetal pathology to NGS and reverse phenotyping. T. Attie-Bitach.
2561W Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation. J. Choi.
2562W BREATH: A web-accessible database of normal human and mouse lung development developed by the Molecular Atlas of Lung Development Program (LungMAP). N. C. Gaddis.
2563W Functional validation in a zebrafish model of ZFHX4 mutations that cause a novel recessive disorder with progressive ophthalmologic, neurodevelopmental, and endocrine dysfunction. Y. Jing.
2564W MicroRNA in Cell Fate Determination. L. Li.
2565W Characterizing neuronal differentiation of human iPSCs by single cell RNA-seq reveals distinct developmental trajectories. J. D. Robertson.
2566W Incorporated Cesium-137 in Pregnant Women and Congenital Anomaly Rates in a Chornobyl Impacted Polissia Region of Ukraine. W. Wertelecki.
2567W Full-length cDNA Sequencing of Alternatively Spliced Isoforms Provides Insight into Human Cancer. T. Clark.
2568T Conventional and Pagetic Giant Cell Tumor of Bone: are they distinct entities? G. Divisato.
2569W A method for characterization of breast cancer samples from archived formalin-fixed, paraffin-embedded (FFPE) tissues. P. Apopa.
2570T Systematic identification of significantly mutated regions reveals a rich landscape of functional molecular alterations across cancer genomes. C. L. Araya.
2571W Evaluation of candidate risk loci in familial lung cancer families linked to 6q. J. E. Bailey-Wilson.
2572T DKK1 is upregulated in mesenchymal stem cells of patients with Multiple Myeloma. O. Bashti.
2573W Advances in Breast Cancer Biomarker Discovery Methods. K. Bramlett.
2574T Recrutiment mechanisms for the establishment of an African American breast cancer cohort for genetic studies in Alabama. M. R. Chandler.
2575W Replication of cervical cancer GWAS-identified variants in Taiwanese population. T. Chang.
2576T Germline cytotoxic lymphocytes defective mutations in Chinese lymphoma patients. X. Chen.
2577W Germline and somatic HIF2A mutations associated with Phaeochromocytoma and Paragangliomas. G. R. Clark.
2578T Identification of candidate target regions physically interact with prostate cancer risk loci. MJ. Du.
2579W Discovery of Rare Variants in Prostate Cancer Susceptibility via Custom Microarray Genotyping. N. Emami.
2580T Hormone-related pathway genes and risk of breast cancer subtypes in African American women. S. A. Haddad.
2581W A comparative analysis of network mutationburdens across 21 tumor types predicts newcandidate cancer genes. H. Horn.
2582T Identifying pancreatic cancer susceptibility genes in the Czech Republic. M. Janatova.
2583W Germline genetic variants in men with prostate and other primary cancers. A. Johnson.
2584T Variation in genes used for multigene expression profiling is associated with pretreatment cognitive function in postmenopausal women with breast cancer. T. A. Koleck.
2585W Identification of rare genetic variation predisposing to lobular breast cancer. C. Petridis.
2586T Association Between DNA Repair Gene Variants and Prostate Cancer Susceptibility using the iCOGS genotyping array. E. Saunders.
2587W Biochemical Pathways Involved in Betel Nuts Induced Oral Squamous Cell Carcinoma. Y. S. Shih.
2588T How big of a role does TP53 play in BRCA1/2 negative familial breast cancer? Data from the SIMPLEXO consortium. T. P. Slavin.
2589W Fine-mapping of the differentiated thyroid cancer risk susceptibility loci at 9q22 and 14q13 in populations from Metropolitan France and from New Caledonia. c. Tcheandjieu.
2590T Whole-exome sequencing in Taiwanese nasopharyngeal carcinoma (NPC) families to detect NPC susceptibility genes and pathways. G. Yu.
2591W Germline and Somatic SDHx Alterations in Apparently Sporadic Differentiated Thyroid Cancer. Y. Ni.
2592T Identification of Retrotransposon Insertion Mutations in Hereditary Cancer. Y. Qian.
2593W Integrated analysis of case-control and tumor-normal pair whole-exome data in breast cancer. F. Hu.
2594T Identification and Functional Characterization of ESR1 Mutations in Breast Cancer. A. Bahreini.
2595W Targeted germline DNA sequence in men with family history of Prostate Cancer (PROFILE STUDY). C. Cieza-Borrella.
2596T LncRNA expression influence DNA damage response in acute lymphoblastic leukemia. R. Gioia.
2597W Functional characterization of melanoma risk-associated locus on chromosome band 1q21.3. MA. Kovacs.
2598T Exome sequencing for detection of pathogenic rare variants in familial papillary thyroid cancer. A. L. Camilleri.
2599W Interleukin 7 gene region is associated with mesothelioma survival in Australian males. G. Cadby.
2600T Identifying inherited genetic variation associated with molecular phenotypes in colon cancer. D. Chang.
2601W Using genetic variants and classical epidemiology risk factors in a risk prediction model for lung cancer among female non-smokers. L. Chien.
2602T The genetic contribution to risk of Acute Lymphoblastic Leukemia (ALL) differs across the lifespan in patients treated with unrelated donor allogeneic hematopoietic cell transplant (URD-HCT). A. Clay.
2603W ENCAPP: elastic-net-based prognosis and biomarker discovery across human cancers. J. Das.
2604T Genetic propensity to allergic rhinitis is associated with sex-specific leukemia risk reduction in children. E. Elhauge.
2605W Common Genetic Variants in 11q13.3 and 9q22.33 Are Associated With Molecular Subgroups of Multiple Myeloma. S. W. Erickson.
2606T Large scale meta-analysis identifies several new risk loci for development of esophageal adenocarcinoma and Barrett’s esophagus in individuals of European descent. P. Gharahkhani.
2607W Non-Small Cell Lung Carcinoma patient survival with ALK polysomy vs. ALK-EML4 rearrangement identified by Fluorescence In Situ Hybridization analysis. R. Gupta.
2608T Association of -31 C/T polymorphism of the IL-1β gene was associated with colorectal cancer patients from Mexican population. I. A. Gutierrez.
2609W A common variant on 2q31.3 reduces lung cancer risk among light smokers: Transdisciplinary Research in Lung Cancer Consortium. S. Han.
2610T Interactions of Family History with Baseline Risk Factors at 5-year Follow-up in a Colorectal Cancer (CRC) Screening Study in US Veterans. E. R. Hauser.
2611W Identification of Subtype Specific Somatic Mutations in Korean Patients with Acute Myeloid Leukemia. S. Heo.
2612T Focused analysis of a panel of DNA repair-related genetic polymorphisms reveals MGMT as a novel susceptibility gene for papillary thyroid carcinoma in Belarusian children exposed to radiation. F. Lesueur.
2613W Longer telomere length estimated by a genetic risk score is associated with increased risk of non-Hodgkin lymphoma. M. Machiela.
2614T Germline variation in inflammation-related pathways and risk of Barrett’s esophagus and esophageal adenocarcinoma. M. M. Madeleine.
2615W Association of MDM309 polymorphism of the MDM2 gene was associated with breast cancer patients from Mexican population. M. G. Marquez.
2616T Study of DNA sequence and expression variation in miRNAs and target genes to explore risk of two types of oral precancerous lesions and cancer. R. Roy.
2617W Genome-wide analysis for prostate cancer biochemical recurrence identifies novel loci for disease progression at 9p23. C. G. Tai.
2618T Analysis of Rare Variants in Finnish Colorectal Cancer Patients. T. Tanskanen.
2619W Genome-wide Association Study on Secondary Cancer Risk among Patients with Basal Cell Carcinoma (BCC) of the Skin. W. Wu.
2620T Whole-exome case-control association and somatic-germline interaction analyses in melanoma. Y. Yu.
2621W The genetics of gene expression in human pancreatic tissues. M. Zhang.
2622T Mendelian randomization to assess the causal role of dietary calcium on colorectal cancer risk. N. Zubair.
2623W Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. B. Swaminathan.
2624T Genome Wide Association Study of Estrogen Receptor Positive Breast Cancer In Ashkenazi Jews Using A Pooled Genotyping Approach. J. Vijai.
2625W Haplotype analysis of common variants in the BRCA1 and BRCA2 genes in Turkey. B. Saglam Ada.
2626T Predicting breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers using common genetic variants. K. Kuchenbaecker.
2627W Quantitative analysis of aberrant BRCA1 and BRCA2 RNA splicing using targeted RNA-Seq. M. Blok.
2628T Targeted RNA sequencing with cBROCA to identify and characterize variants altering transcription in breast cancer genes. S. Casadei.
2629W Impact of SNVs on gene expression and alternative splicing in Diffuse Intrinsic Pontine Gliomas. A. K. Ramani.
2630T Modulation of GATA3 binding to an enhancer at the ESR1 locus (6q25.1) underlies the association with breast cancer risk. S. D. Bailey.
2631W SMART-ddPCR: A novel method for accurate assessment of preferential allelic imbalance in tumor DNA. A. J. de Smith.
2632T Annotation of functional impact of missense mutations in BRCA1. P. Gaudet.
2633W Extending the prediction of pathogenicity for genetic variants in the DNA double-stranded break repair pathway. J. Loke.
2634T Functional characterization of BARD1 missense variants. A. Toland.
2635W Germline mutations in ETV6 confer risk of acute lymphoblastic leukemia and thrombocytopenia. S. Topka.
2636T Systematic prioritization of druggable mutations across 16 cancer types using a structural genomics-based approach. J. Zhao.
2637W An intronic indel variant confers melanoma risk through PARP1 expression regulation. J. Choi.
2638T Breast cancer pedigree exome sequencing reveals inherited Rad52 truncation mutation implicated in breast cancer susceptibility. H. A. Costa.
2639W RNA functional studies for the classification of germline variants of uncertain significance that may impair splicing. M. B. Warf.
2640T Breast cancer risk variants at 11q13 alter the activity of transcriptional enhancers of novel long noncoding RNAs, CUPID1 and CUPID2, implicated in DNA repair. J. D. French.
2641W Multi-modal report summary for AML: Combining NGS and Cytogenetics Data to Enable Therapeutic Decision Making. C. E. Carmack.
2642T The correlation between the expression level of has-miR-338-3p with the rate of breast cancer metastasis to lymph nodes. A. Abak.
2643W Acquired Telomere Shortening in Women Diagnosed with Breast Cancer is Associated with Chemotherapy and Depressive Symptoms. A. Alhareeri.
2644T Molecular basis of the resistance to X-rays of chondrosarcomas. J. Aury-Landas.
2645W Significance of maspin protein expression in prognosis of gallbladder cancer. K. Baghel.
2646T Association of CDH1 gene polymorphisms -472delA and -160C>A with diffuse and intestinal gastric cancer in Mexican population. A. R. Bustos-Carpinteyro.
2647W High Grade Glioblastoma Patients have Increased Levels of Systemic Chromosomal Instability, detected by High Resolution Flow Cytometry in Circulating Reticulocytes. M. Camargo.
2648T The Prevalence of CYP2D6 Gene Polymorphisms among Filipinos and Their Use as Biomarkers for Cancer Risk among Those with Lung Cancer. E. Cutiongco de la Paz.
2649W Germline variant analysis and ancestry inference of 2,153 high-depth whole genomes of patients afflicted with diverse cancers. F. M. De La Vega.
2650T Comparing Heterogeneity across Biomarkers in Cancer Stem Cells and Side Populations in Breast Cancer Cell Lines. D. Dhawan.
2651W Expression Levels of Matrix Metalloproteinase-9 and P-Element Induced Wimpy Testis Like-2 in Prostate Cancer: A Case-Control Study. M. Dianatpour.
2652T L-1 activity and expression in normal esophagus, Barrett’s esophagus, esophageal adenoarcinoma, and esophageal squamous cell carcinoma. T. T. Doucet.
2653W Caveolin-1: A Potential Biomarker of Aggressive Triple-Negative Breast Cancer in African American Women. J. Getz.
2654T Chromosomal imbalances detected by array CGH from thirty-one Chinese non-smoker adenocarcinomas of the lung. Y. Gu.
2655W The landscape of microsatellite instability in cancer exomes. R. J. Hause.
2656T Cell-free urinary microRNA quantification as non-invasive biomarker in patients with bladder urothelial carcinoma. A. Horinek.
2657W Using Rare Mutation Analysis Using Digital PCR on QuantStudio® 3D to Validate Ion AmliSeq™ Next Generation Sequencing for Cancer Research. M. Laig.
2658T Targeted RNA sequencing for simultaneous expression profiling and detection of gene rearrangements in FFPE biopsies. K. Maddula.
2659W Genetic risk assessment for lung squamous cell carcinoma using exome sequencing in Korean men. J. W. Park.
2660T Cancer genomic resources, opportunities and needs in the Latin American region. S. Perdomo.
2661W Evaluation of four putative genetic risk factors affecting breast cancer susceptibility in patients with sporadic breast cancer. M. Saeidnejad.
2662T Contribution of molecular changes to uveal melanoma tumorigenesis in a Brazilian cohort. H. Sarubi.
2663W Mitochondrial DNA variation as a biomarker for the development of radiation-induced lung toxicity. H. Smeets.
2664T Metastatic Signature Profiles in Triple Negative Breast Cancer. K. Upadhyay.
2665W Association of Wnt signaling pathway gene variants in gallbladder cancer susceptibility, therapeutic response and survival. A. Yadav.
2666T Understanding Lung Adenocarcinoma Morphology and Prognosis by Integrating Omics and Histopathology. K. Yu.
2667W Single gene (SG) vs. multi-gene panel (MGP) testing for TP53 germline mutations in Li Fraumeni syndrome (LFS). H. Q. Rana.
2668T Biopsy-free comprehensive genomic profiling of over 5,000 cancer patients using a CLIA-certified commercial cell-free DNA next-generation sequencing test. S. Mortimer.
2669W Genomic variations in plasma cell free DNA differentiate early stage lung cancers from normal controls. S. Xia.
2670T Prevalence of BRCA1 and BRCA2 common mutations among Algerian patients with breast and/or ovarian cancer. F. Cherbal.
2671W Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. D. Trujillano.
2672T Identification of a circulating miRNA signature for noninvasive detection of early colonic polyps through optimized miRNA-seq of blood plasma. A. Hardigan.
2673W PIK3CA mutational analysis platform utilizing the Labcyte Echo® Liquid Handler to reduce cost, sample amount and increase throughput to broadly assess acquired mutational status. J. Lesnick.
2674T The upregulation mechanisms of leptin-induced ADAMTS-1, involved in angiogenesis. K. O. Yaykasli.
2675W The contribution of high and moderate penetrance breast cancer susceptibility genes to familial breast cancer risk in BRCAx families. K. N. Maxwell.
2676T Using expression data to define patient specific predictors for survival outcomes in lung adenocarcinoma. G. Cai.
2677W Deubiquitinating enzyme Usp15 regulates cell cycle progression by deubiquitination of spliceosomal protein. T. DAS.
2678T Down-regulation of hTERT in glioblastoma cell lines using siRNA. G. K. Chetan.
2679W The role of periostin in regulating of early tumorgenesis in oral squamous cell lines carcinomas. G.E-H. Gawish.
2680T Molecular cytogenetic characterization of the malignant primitive neuroectodermal tumor cell line SK-PN-DW. N. Du.
2681W Detection of Subtelomeric CNVs in Colorectal Cancer using MLPA. M. Rocha.
2682T Unusual revertant mosaicism in three siblings affected with Fanconi anemia group FA-G. S. Chandrasekharappa.
2683W The G2 micronucleus assay in lymphocytes shows increased radiosensitivity in in healthy BRCA1 mutation carriers. K.BM. Claes.
2684T Identification of new target genes in microsatellite unstable colorectal cancer by exome sequencing. J. Kondelin.
2685W Integrated landscape of molecular alterations in uveal melanoma. H. Anbunathan.
2686T Somatic and genomic mutation spectrum of unilateral Vestibular Schwannoma (VS). R. Birkenhager.
2687W Comprehensive genomic characterization of three spatially and temporally distinct tumors from different organs in a single patient exhibiting both BRCA2 and VHL germline mutations. S. M. Boyle.
2688T Down regulation of TGFB3 plays a critical role in chordoma formation. W. Chen.
2689W Genomic alterations in BCL2L1 and DLC1 contribute to drug sensitivity in gastric cancer. S. Y. Cho.
2690T Flying Blind: Building a Cancer Genomic Standard. M. Clark.
2691W Genetic profile of tumorigenesis in Brazilian NSCLC patients. P.GP. Couto.
2692T Breast cancer mutations are enriched in ERVK elements. D. Ebrahimi.
2693W How deep does intra-tumor genetic heterogeneity run in breast cancer? Identifying multiple different mutations in a single gene (intra-gene heterogeneity) within individual breast cancer tumors. B. Gottlieb.
2694T Complementing NGS panel sequencing by high rersolution custom array CGH increases the mutation detection rate in hereditary breast and ovarian cancer. K. Hackmann.
2695W Somatic mutation detection in urological cancers from liquid biopsies. C. Ionescu-Zanetti.
2696T Case analysis of advanced cancers with Watson Genomic Analytics. T. Koyama.
2697W Highly Sensitive and Cost-Effective Detection of BRCA1 and BRCA2 Cancer Variants in FFPE Samples Using Multiplicom’s MASTR Technology & Single Molecule, Real-Time (SMRT®) Sequencing. S. Kujawa.
2698T Clinical validation of a droplet PCR-based targeted gene panel for the detection of somatic variants in solid tumors. L. Liang.
2699W Cis-regulatory drivers in colorectal cancer. H. Ongen.
2700T Gene polymorphisms vis-a-vis susceptibility to breast cancer and benign breast disease: A case-control study from Jammu region of J&K State, India. R. K. Panjaliya.
2701W Whole exome sequencing and copy-number variation analysis of 20 neurofibromatosis type 2-associated spinal and cranial meningiomas. A. Pemov.
2702T Driver gene mutations and fusion genes in patients with sezary syndrome. A. Prasad.
2703W Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition. I. Ragoussis.
2704T Helicobacter DNA integrations in the gastric cancer genome. K. M. Robinson.
2705W Somatic mutation load and risk of colorectal cancer: NGS-study of a large panel of healthy and diseased individuals. N. T. Rodchenko.
2706T Enhanced error correction and increased sensitivity in variant calling in FFPE samples with cancer hot spot amplicon panels. T. Singer.
2707W Evaluation of single-molecule real-time long-read sequencing as a rapid-turnaround tool for validation of somatic mutations in cancer genomics. A. Uzilov.
2708T Comprehensive characterization of the cancer genome by integrating targeted DNA and RNA sequencing. P. Van Hummelen.
2709W Genomic alterations associated with clonal hematopoietic expansion and malignancies inferred in normal human blood samples. M. Xie.
2710T Frequent alterations in cytoskeleton remodeling genes in primary and metastatic lung adenocarcinomas. X. Zhao.
2711W Mutation spectra of BRCA genes in Iranian women with early onset breast cancer, 15 years experiences. V. R. Yassaee.
2712T iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing cancer driver genes in personal genomes. C. Dong.
2713W Sensitive Mutation Detection By Sequencing Circulating Cell-Free DNA. N. Fang.
2714T Low cost, broad panel (100kb) liquid biopsy with reduced DNA sequencing by depletion of wild-type sequence. A. Marziali.
2715W Detection of somatic mosaicism in children with suspected DICER 1 syndrome using high sensitivity sequening with molecular tag-containing Haloplex HS. L. de Kock.
2716T Reconstructing clonal evolutionary process among copy number variants in tumor. A. Tai.
2717W Successful detection of 40 COSMIC hotspot mutations at allelic frequency below 0.5%. A. Mongan.
2718T The transcriptional landscape and mutational profile of follicular thyroid neoplasm. H. Cho.
2719W Haplotyping and structural variant detection from whole exome sequencing of 1ng of cancer cell line DNA. K. M. Giorda.
2720T The Genomic Landscape of Allelic Imbalance in the Normal-Appearing Airway Field of Cancerization. H. Kadara.
2721W Towards understanding the genomic architecture of cancer genomes. E. T. Lam.
2722T Direct Structural Variation Analysis of FFPE Samples Using Long Mate Pair NGS Libraries. D. Mead.
2723W Genomic alterations profile in triple negative breast tumors with loss of BRCA1 nuclear expression. T. Tapia.
2724T Identifying somatic copy number alterations for cervical cancer in the Latino population. C. Xu.
2725W Racial differences in molecular cytogenetic abnormalities in consecutive black and white patients with multiple myeloma. Y. S. Zou.
2726T Genetic Hotspots of Glioma Progression by Array CGH: A Systematic Review. C. J. DeGraffenreid.
2727W Hepatitis C Virus and Schistosomiasis as A Causative Factor for hTERT Amplification in Hepatocellular Carcinoma. O. M. Eid.
2728T Translocation t(5;16)(q32;p13) and trisomy 8 in a patient with Acute Eosinophilic Myelomonocytic Leukemia. X. Montenegro.
2729W Sensitive cancer fusion detection and discovery in FFPE samples by RNA-Seq. L. C. Watson.
2730T A complex variant of t(7;12) with loss of RB1 locus in a case of Acute Erythroblastic Leukemia. A. Yenamandra.
2731W Transformation of 5q- Syndrome to Chronic Myelogenous Leukemia with a Novel Complex BCR/ABL1 Translocation with Rapid Transformation to Acute Myelogenous Leukemia: An Update. A. Zaslav.
2732T Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. N. Burnichon.
2733W A specific “leukemia diagnostic panels” based on selection of novel relevant biomarkers for leukemiadiagnosis, prognosis and therapeutic decision making. M. Delledonne.
2734T Identification of Two Families with Li Fraumeni Syndrome on Multi-Gene Panel Testing. C. Csuy.
2735W ≤Evaluation of IGK and IGL Molecular Gene Rearrangements According to the BIOMED-2 Protocol for Clinical Diagnosis of Hodgkin Lymphoma≥. S. Ghorbian.
2736T BRCA1/2 Mutation Status Is an Independent Factor of Improved Survival for Advanced Stage Ovarian Cancer. R. Janavicius.
2737W Gene expresion analysis of TNF-α, 5-LOX and iNOS in tumoral and normal adjacent tissue of sporadic colorectal cancer patients. U. Santana-Bejarano.
2738T Clinical multiplex genetic testing using a standardized panel approach in a population-based hereditary cancer clinic. K. A. Schrader.
2739W Systematic BRCA1/2 genetic testing in unselected epithelial ovarian cancer- results from the GTEOC study. M. Tischkowitz.
2740T Desmoid tumor as a presenting symptom of FAP in a 54 year old man with a disease causing mutation in APC and family history of FAP. C. Vinkler.
2741W A comparative analysis of the mutaome profile of 10 frequently mutated genes in newly diagnosed and refractory and relapsed acute myeloid leukemia. Y. Zhang.
2742T Alternative genetic treatment technique for leukemia. S. Rashmi.
2743W Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): A 10-year retrospective chart review of Eastern Ontario referrals. P. T. Bhola.
2744T APC mosaicism in a young woman with juvenile fibromatosis. E. Grindedal.
2745W Phenotypic delineation and bioinformatic detection of the pathogenic variant 5083DEL19 in BRCA1 in two brazilian patients. R. M. Minillo.
2746T Neuroendocrine tumors of the lower gastrointestinal tract in hereditary colon cancer syndromes. C. Pedley.
2747W Double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient. A. Vilalta.
2748T The changing landscape of hereditary cancer testing: Lessons learned from 1703 patients seen at an NCI designated cancer center. G. L. Wiesner.
2749W Genetic counseling and analysis plan in Von Hippel-Lindau syndrome and pheochromocytoma. W. Smaoui.
2750T Examining severity of cancer history in patients with pathogenic variants in ATM. J. Abernethy.
2751W Renal manifestations of TSC and early onset of hypertension: About two Tunisian familial cases. N. Abdelmoula.
2752T Bilateral, multifocal renal tumors diagnosed as Birt-Hogg-Dubé syndrome confirmed by genetic analysis. S. Park.
2753W Cytosine Modification Signatures Distinguish Clinical Subtypes of Glioblastoma Stem Cells. W. Zhang.
2754T Differential Expression of miR-139-5p as a Saliva Biomarker in Tongue Squamous Cell Carcinoma Patients. M. B. Duz.
2755W HDACi-induced differentiation of myelogenous leukemia results in targeted chromatin accessibility changes. C. L. Frank.
2756T Distinctive expression profiles of lncRNAs and lncRNA-related miRNAs in glioma subtypes. D. Glavac.
2757W SFRP1 promoter hypermethylation in white blood cells is associated with sprodic breast cancer in Iranian women. Y. Kiumarsi.
2758T Selection of Allelic Expression in lung adenocarcinoma through Genome-wide Allelic Expression Imbalance Analysis. X. Kong.
2759W Tumor DNA methylation profiling in African American men: A high-risk prostate cancer population. R. Rubicz.
2760T Epigenome-wide profiling of DNA methylation in paired prostate cancer versus adjacent benign tissue. J. L. Stanford.
2761W BCL2 : A Relevant Immunohistochemical Marker for Triple Negative Breast Cancer Patients. S. Zubeda.
2762T Thyroid nodules and multinodular goiter associated with germline mutations in DICER1. N. Khan.
2763W Clinical Utility Evaluation of a Multiple-Gene Sequencing Assessment in Chinese Hereditary Breast Cancer. X. Ye.
2764T Germline mutations in RECQL genes identified in high-risk breast cancer families. F. Fostira.
2765W Whole exome sequencing enhances our understanding of pituitary adenoma. K. Reddy.
2766T Challenges in disease gene identification in complex diseases: example from familial melanoma. A. M. Goldstein.
2767W Germline BAP1 mutations misreported as somatic based on tumor-only testing. M. H. Abdel-Rahman.
2768T The association between RAD51 135G>C polymorphism and breast cancer risk. A.Mr. Alblihy.
2769W Genetics of Breast Cancer in a Highly Consanguineous Population, Challenges and lessons learned so far. A. AlSaegh.
2770T Next Generation Cancer Gene Testing in a Large HMO: the First 10 Months’ Experience. M. Alvarado.
2771W Expression of A-kinase anchor protein 4 (AKAP4) in breast cancer. S. Amini.
2772T Systematic pan-cancer analysis of tumor purity. D. Aran.
2773W Large scale rare variation case-control studies. Comparing rare variation landscapes in uveal and cutaneous melanoma. M. Artomov.
2774T Report of two patients with unclassified variants in BRCA2 gene. How to perform the genetic counseling? M. D. F. Carvalho.
2775W Characterization of cycle-regulated genes in a cancer cell line by single cell genomics. O. De la Cruz Cabrera.
2776T The power of next generation sequencing in the detection of breast and ovarian cancer susceptibility genes other than BRCA. M. Eliade.
2777W Mosaic loss of chromosome Y (LOY) in peripheral blood is associated with smoking, shorter survival and increased risk of cancer in men. L. A. Forsberg.
2778T Germline PRKCD mutation linked to childhood EBV+ Hodgkin Lymphoma. M. Ivanova.
2779W Non-random occurrence and early age of onset of diverse lymphoid cancers in families supports the existence of genetic risk factors for multiple lymphoid cancers. S. Jones.
2780T Feasibility of cascade screening in a randomly selected sample of families at risk for hereditary breast cancer from a statewide cancer registry. M. C. Katapodi.
2781W Retaining familial cancer cases and families in a genetic research study on lung cancer. D. Mandal.
2782T A prospective study of mitochondrial DNA copy number and the risk of prostate cancer. A. Moore.
2783W Exploring the regulatory roles of common variants associated with lung cancer subtypes. T. O'Brien.
2784T Correlation between BRAF and MLH1 hypermethylation testing in a Lynch syndrome universal screening program. L. H. Rodgers.
2785W GSK3β is a pivotal regulator in cervical cancer development and a potential target of therapeutics. A. Saeidian.
2786T Validation of copy number variations in hereditary prostate cancer families using Droplet Digital PCR. K. Wood.
2787W Multi-gene panel testing in breast, ovarian, and pancreatic cancer cases: Prevalence and unintended screening recommendations. E. L. Young.
2788T A new method to estimate clonal composition of solid tumors from whole-genome copy number profiles. L. Wu.
2789W Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age. A. Goverde.
2790T Genotype-phenotype analysis of Von Hippel Lindau syndrome in Korean families. J.S. Lee.
2791W Majority of familial colorectal cancer unexplained by known cancer susceptibility genes. B. A. Thompson.
2792T TruSeq®FFPE DNA Library Prep, a reliable method for preparing high quality Illumina® Whole Genome Sequencing (WGS) libraries from challenging FFPE samples. R. Sanches-Kuiper.
2793W Using a Costello Syndrome cohort as a syndromic model to better understand embryonal rhabdomyosarcoma at the molecular, cytogenetic, and functional level. K. M. Robbins.
2794T Variant of Unknown Significance Rates Vary by Ethnicity and Genes Analyzed. L. Panos.
Molecular Basis of Mendelian Disorders
2795W Phenotypic and molecular characterization of the SCA28 knockin mouse model harboring the Afg3l2 p.M665R mutation. C. Mancini.
2796T Rai1 haploinsufficient mice exhibit abnormal social behavior. K. Walz.
2797F Assessing Behavior and Anxiety in the Dhcr7Δ3-5/T93M mouse model of Smith-Lemli-Opitz Syndrome. J. L. Cross.
2798W Mouse with substitution of type I collagen 3-hydroxylation site has altered ECM but does not recapitulate the bone dysplasia of types VII/VIII Osteogenesis Imperfecta. J. C. Marini.
2799T Defects of lipid synthesis underlie the age dependent demyelination caused by lamin B1 over expression. Q. S. Padiath.
2800F Knockout CERKL gene causes retinal degeneration in zebrafish. S. Yu.
2801W A mouse modifier study using the Nphp10 (Sdccag8Tn(sb-Tyr)2161B.CA1Cove) model to identify a modifier locus of ciliopathy-related phenotypes. K. Weihbrecht.
2802T Interaction of MAB21L2 with BMP signaling and PAX6 in ocular development. B. Deml.
2803F Ubiquitous expression of the Proteus mutation Akt1 c.49G>A, p.Glu17Lys causes embryonic lethality in mice. M. J. Lindhurst.
2804W Involvement of GTF2IRD1 in the control of facial skin features and patterning of Williams-Beuren Syndrome. C. P. Canales.
2805T Loss of function mutation of EGFR in compound heterozygous state causes severe skin defect, gastrointestinal dysfunction and electrolyte imbalance. T. Yokoi.
2806F Lipoid Proteinosis (LP), a complex neuro-cutaneous disorder: Novel and recurrent mutations in the ECM1 gene, and consequences of Ecm1 knock-down in zebrafish. L. Youssefian.
2807W Zebrafish genetics and disease models: an emerging model for human disease. S. A. Hutchinson.
2808T Facilitating access to human disease models. S. Rockwood.
2809F Analysis of zebrafish orthologs of the human Peters Plus syndrome gene, b3glcta and b3glctb, using morpholino knockdown and TALEN-mediated genetic knockout assays. E. R. Weh.
2810W A heterozygous mutation of MOV10L1 in a pedigree of spermatogenic failure. J. Lu.
2811T A new mouse model of type 2 Gaucher disease. A. Gonzalez.
2812F Modeling DPMS function in zebrafish to explore the interface of dystroglycanopathies and congenital disorders of glycosylation. M. Manzini.
2813W Functional characterization of deleterious alleles in the vitamin B12 receptor, CD320, in humans and mice. D. J. Bernard.
2814T Strategy for generating and characterizing a zebrafish model of spondylometaphyseal dysplasia with cone-rod dystrophy. J. Jurgens.
2815F Development of a zebrafish model for ATP7A-related motor neuron disease. D. Martinelli.
2816W Differentially expressed striatal transcripts in the OVT73 ovine model of Huntington ’s Disease. R. G. Snell.
2817T Functional dissection of PITX2 in zebrafish. K. Hendee.
2818F Postnatal excision of a Bardet-Biedl Syndrome gene results in leptin resistance, leading to obesity. J. E. Garrison.
2819W A Knock-out Mouse Model of CMAMMA (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. M. W. Epping.
2820T Phenotypic characterization of a zebrafish model of Smith-Lemli-Opitz syndrome. C. V. M. Cluzeau.
2821F Motor-phenotypical characterization and neuronal analysis of a transgenic rat model for DYT1 dystonia focusing on age dependent and brain region specific pathological key features from date of birth to old age of rats. V. Gaiser.
2822W Mouse Models of Human Disease: How mouse data provides mechanistic insight into disease etiology and developmental therapeutics. C. L. Smith.
2823T Genomic copy number alterations in non-syndromic hearing loss. R. Mingroni-Netto.
2824F Sporadic Hidradenitis Suppurativa (acne inversa) and acne conglobata are not associated with gamma-secretase gene mutations. N. M. Saiyed.
2825W Uniparental origin in ocuocutaneous albinism. W. Cardenas.
2826T Novel FGF10 Mutation in Autosomal Dominant Aplasia of Lacrimal and Salivary Glands. J.-W. Kim.
2827F Genome-wide linkage analysis of non-syndromic cleft lip with or without cleft palate in a large multigenerational Indian family. U. Ratnamala.
2828W Investigation into Clinical Significance of c-FLIP and Jun-B Expression in Psoriatic Patients. N. Salleh.
2829T Development of refractive errors – what can we learn from retinal dystrophies? V. J. M. Verhoeven.
2830F A Splicing Mutation in VPS4B Causes Dentin Dysplasia I. F. Xiong.
2831W Ehlers-Danlos syndrome, hypermobility type is linked to chromosome 8p22-8p21.1 in an extended Belgian family. P. J. Coucke.
2832T Molecular diagnosis of F8 gene in sever hemophilia A in the Iranian population. A. Ebrahimi.
2833F Exome sequencing identifies SPG3A and OTOF gene mutations in patients with Pure Hereditary Spastic Paraplegia. S. Majid.
2834W Informativeness of St14 VNTR marker for carrier detection and prenatal diagnosis of hemophilia A in Iranian families. S. Mansouri derakhshan.
2835T Oculocutaneous albinism in a boy with a complex phenotype, and homozygosity for an ancestral block on chromosome 11 bearing a double set of TYR mutations. S. L. Everhart.
2836F Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough maps to chromosome 1p13.3-1q23. S. Miura.
2837W Adult onset motor neuron disease predominant Triple 'A' syndrome in South India- ? due to a novel mutation. D. Selvarajan.
2838T Novel Gene Discovery Using Whole Exome Sequencing and Linkage Analysis in a Large Family with Autosomal Dominant Ataxia. S. Cho.
2839F A Newly Recognized Intellectual Disability Disorder Caused by Variants in TELO2, a gene encoding a component of the TTT complex. J. You.
2840W The Expanding Genetic and Phenotypic landscapes of Deafness Genes. H. Azaiez.
2841T A Comprehensive Search for Deafness Genes Associated with Inner Ear Anomalies. G. Bademci.
2842F PDZD7 and hearing loss: more than just a modifier. KT. Booth.
2843W Exome Sequencing for Deafness Genes: Reducing False Positives by Functional Analysis. N. Danial-Farran.
2844T Genetic variation in genes associated with autosomal recessive non-syndromic hearing impairment. H. Kremer.
2845F Application of a targeted next-generation sequencing panel (OTO-NGS-Panel) in a cohort of Brazilian patients with hereditary hearing loss. PZ. Ramos.
2846W Whole Genome Sequencing Delineates Genetic Sub-Types of Neuromyelitis Optica. K. Estrada.
2847T HA20: A novel autoinflammatory disease caused by haploinsufficiency of A20, encoded by TNFAIP3 . Q. Zhou.
2848F Identification of uniparental isodisomy from sequencing data. D. Bis.
2849W Rare Variant Gene-Based Case-Control Burden Testing in a Mendelian Disease Framework Using Publically Available Control Data. M. Lippincott.
2850T Identifying candidate mutations for rare birth defects through family trio-based exome sequencing. T. Nicholas.
2851F The UK 100,000 Genomes Project. K. Smith.
2852W Inherited disorders in apparently acquired severe aplastic anemia. B. J. Ballew.
2853T Genetic determinism of Primary Osteoarthritis: the EXORHUM project. C. Bauge.
2854F Molecular etiology of arthrogryposis in a cohort of families of Turkish origin. Y. Bayram.
2855W Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature, and intellectual disability. K. D. Kernohan.
2856T Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. H. Kodera.
2857F Exome sequence analysis identifies novel candidate genes associated with neuronal migration disorders. W. Wiszniewski.
2858W Identification of a rare variant in POLD1 in a family with familial multiple lipomatosis. C. Mirlene.
2859T Novel gene discovery across a large cohort of patients with syndromic craniofacial anomalies. E. J. Bhoj.
2860F Accelerating the pace of Mendelian gene discovery via multi-modal data sharing: Geno2MP, the UW-RMD Family Portal, and MyGene2. J. X. Chong.
2861W De novo variants in CHAMP1 associated with neurodevelopmental abnormalities and dysmorphic features. A. Telegrafi.
2862T Left ventricular hypertrabeculation and gastropathy associated with MIB2 variants altering NOTCH signaling. S. Attanasio.
2863F Mutations in VEGFR3 signaling pathway explain a third of familial primary lymphedema. E. Fastre.
2864W Mutations in YY1AP1 cause fibromuscular dysplasia in patients with Grange syndrome. D. Guo.
2865T Mutation spectrum in a Pulmonary Arterial Hypertension (PAH) cohort and identification of associated truncating mutations in TBX4. C. Gonzaga-Jauregui.
2866F Whole genome sequencing of cytogenetically balanced germline chromosomal rearrangements identify gene disruptions in both phenotypically normal and clinically affected individuals. A. Lindstrand.
2867W Combined targeted sequencing and array CGH of ciliary genes reveals increased mutational load in Bardet-Biedl syndrome and identifies CEP76 as a novel driver of BBS. M. Kousi.
2868T Whole Exome Sequencing (WES) to Analyze the Genetic Basis of Cleft Lip and Palate. M. Basha.
2869F Exome Sequencing in a Multiplex Family with Cleft Palate Only Identifies a Novel Damaging Mutation in ARHGAP29. A. Butali.
2870W Whole Exome Sequencing in a Family with Primary Open Angle Glaucoma. H.F. Nunes.
2871T Functional evidence for the involvement of WNT10A in failure of tooth development in humans and zebrafish. M. Zhao.
2872F Deletions of the 5’ HOXC genes are associated with lower extremity abnormalities including clubfoot and vertical talus. D. M. Alvarado.
2873W The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. C. R. Beck.
2874T New genetic insights into the spectrum of disorders of glycosylation: a patient with multiple congenital anomalies. H. H. Arts.
2875F De novo mutations in novel histone and epigenetic regulator genes cause multiple genetic syndromes. D. Li.
2876W Whole exome sequencing detects variants in MBTPS2 and ITGB4 in a Brazilian patient with severe ichthyosis congenita and limb malformations. M. P. Migliavacca.
2877T Targeted NGS reveals a high incidence of digenic inheritance in monogenic diabetes and congenital hyperinsulinism. A. Campos-Barros.
2878F Molecular characterization of Epidermolysis Bullosa in Iran. H. Vahidnezhad.
2879W De novo truncating mutations MSL3 cause a new recognizable syndrome. A. L. Bruel.
2880T Investigating the genetic architecture of Congenital Hypothyroidism using next-generation sequencing. E. Goncalves-Serra.
2881F De novo mutations in the eukaryotic translation elongation factor, EEF1A2 cause epileptic encephalopathy. G. L. Carvill.
2882W A missense variant in KRT25 causes autosomal recessive woolly hair. M. Ansar.
2883T De Novo Variants in GABBR2 Associated with Developmental Delay, Hypotonia, and Cyanosis. N. J. Boczek.
2884F Compound heterozygous loss of function variants in the signaling transducer GNB5 in two sisters with severe hypotonia and hyporeflexia, cognitive deficit and epilepsy. P. De Nittis.
2885W Identification of New Genes and Pathways for Rare Infantile Forms of Myopathies and Neuromuscular Disorders. J. M. Hunter.
2886T A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. M. Kohda.
2887F Genetic analysis of autosomal recessive primary microcephaly in Indian population. A. Kumar.
2888W Description of a male with Microphthalmia Syndromic 2 and a rare BCOR missense variant. A. L. Pilla.
2889T Whole exome sequencing analysis of intracranial aneurysm in multiplex families. A. Powell.
2890F Molecular genetic studies of the oculocutaneous albinism phenotype in the Pakistani population. M. Shahzad.
2891W Systematic evaluation of patients with idiopathic short stature using whole exome sequencing. C. T. Thiel.
2892T Expansion of the Troyer Syndrome phenotype by discovery of mutations in Turkish families. H. Unal Gulsuner.
2893F Genetic characterization of childhood-onset cardiomyopathies in the Finnish population. C. Vasilescu.
2894W Genetic and functional studies of MC1R alleles associated with hypopigmentation phenotype in human. S. Yousaf.
2895T Compound heterozygous mutations leading to loss of JAK2 function cause an immune dysregulatory syndrome. X. Yu.
2896F Novel and previously reported mutations in MSX1 gene in three Mexican families with non-syndromic dental agenesis. E. A. Ramirez-Ramirez.
2897W Achieving genetic diagnosis in families with enlarged vestibular aqueduct using massively parallel sequencing. C. C. Wu.
2898T Introduction of an effective gene-panel for DNA diagnosis of epidermolysis bullosa and skin fragility. H. H. Lemmink.
2899F Clinical and genetic analysis of Wiedemann–Steiner syndrome caused by KMT2A mutations. N. Miyake.
2900W A Novel OFD1 Missense Mutation Causes an Autosomal Recessive Dyskeratosis Congenita-Like Disorder Further Complicating the Clinical Heterogeneity of OFD1 Mutations. H. Shaath.
2901T The Contribution of Mutations in Syndrome-Causing Genes to Non-Syndromic Retinitis Pigmentosa. M. Xu.
2902F A truncating mutation in CLMN is associated with intellectual disability. A. Alkhateeb.
2903W An Integrative Approach to Characterizing Human Diseases and Identifying Human Disease Genes. A. Chhibber.
2904T Progressive encephalopathies in children: Clinical and molecular characterization. E. Frengen.
2905F Canine disorders as models for corresponding human conditions - new mutations and aspects of rare diseases. M. K. Hytönen.
2906W A point mutation in PDGFRB causes autosomal dominant Penttinen syndrome. J. J. Johnston.
2907T The mutation spectrum of a large Brazilian inherited retinal disease cohort. E. M. Jones.
2908F A PPP1R21 Frame-Shift Insertion Mutation Causes a Novel Autosomal Recessive Neuro-Developmental Disorder. M. Kambouris.
2909W A New Retinits Pigmentosa Gene Identified by Homozygosity Mapping and Whole Genome Sequencing. N. H. Wang.
2910T De novo heterozygous GMNN mutations cause autosomal dominant primordial dwarfism associated with Meier-Gorlin syndrome. Y. Yang.
2911F Mutation spectrum of autosomal recessive retinitis pegmentosa patients of India identified by whole exome sequencing. X. J. Zhu.
2912W The INVESTICATE project: Identification of New Variation, Establishment of Stem cells, and Tissue Collection Aimed at Treatment Efforts. L. Crapper.
2913T HERC1: A possible new candidate gene for intellectual disability. A. Das Bhowmik.
2914F De novo mutations in KAT6A identified by whole exome sequencing cause a neurodevelopmental disorder with syndromic features. F. Millan.
2915W A founder mutation in C12orf4 gene: A candidate gene for autosomal recessive non-syndromic intellectual disability (NSID). A. K. Philips.
2916T Analysis of a cohort of Polish patients with X linked intellectual disability by the targeted X chromosome exome sequencing (NGS). S. O. Rzońca.
2917F DCHS2, a novel autosomal recessive cause of Van Maldergem Syndrome. N. Voisin.
2918W Disease gene discovery in familial amyotrophic lateral sclerosis. J. A. Fifita.
2919T CFTR mutations in Chinese: Recurrent and novel mutations in cystic fibrosis. Y. Liu.
2920F Non-coding variants segregate with disease in South African families with keratolytic winter erythema (KWE). T. Ngcungcu.
2921W Mutations in STAC3, the gene responsible for Native American Myopathy, are not responsible for the phenotypically similar Carey-Fineman-Ziter syndrome. S. M. Robbins.
2922T Sequential sequencing approach elucidates high proportion of monogenic obesity cases in a consanguineous population. S. Saeed.
2923F A loss-of-function mutation in JAK1 is associated with epidermodysplasia verruciformis. R. Wang.
2924W The molecular anatomy of multiple Noonan Syndrome PTPN11 mutations in the testes of normal men using deep sequencing. J. Eboreime.
2925T Identification of 4 novel mutations in a cohort of tuberous sclerosis patients from Russia. L. I. Shagam.
2926F Mutation spectrum in a cohort of patients with ABCA4-related retinal dystrophies. Y. Xie.
2927W Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy. T. Harel.
2928T Identification of a 2nd family with a MYH14 p.Arg941Leu mutation confirms MYH14 as a gene causing Charcot-Marie-Tooth neuropathy and hearing loss. C. S. Smith.
2929F Mutations in phosphatidylinositol 4-kinase-beta cause autosomal-dominant non-syndromic hearing loss. M. Gong.
2930W A dominant Limb Girdle Muscular Dystrophy with severe respiratory involvement; HNRNPLD as the new player. S. E. Lipinski.
2931T Beyond the exome: Improving genetic diagnoses in Mendelian disease with whole genome and RNA sequencing. B. B. Cummings.
2932F Deciphering of a rare autosomal recessive type of Osteogenesis Imperfecta (OI) in an Iranian family by Next Generation Sequencing (NGS). G. Shariati.
2933W Computational approach improves identification of RPGR ORF15 mutations for inherited retinal disease patients by next-generation sequencing. Z. Ge.
2934T Impact of whole exome sequencing on identification of disease causing mutations among Iranian patients with Autosomal Recessive Retinitis Pigmentosa. M. Beheshtian.
2935F Modifiers genes in metabolic pathway modulate the severity of Incontinentia Pigmenti phenotype. F. Fusco.
2936W A novel missense mutation in NLRC4 gene causes an autoinflammatory disorder associated with hypercytokinemia, chronic meningitis and hearing impairment. H. Oda.
2937T Changes in red blood cell membrane structure in G6PD deficiency and thalassemia: an atomic force microscopy study. W. Jiang.
2938F From the Bcl-2-deficient mice to the human phenotype : an uncomplete demonstration requiring data sharing. L. Duplomb-Jego.
2939W A potential founder variant in RLTPR in 3 Norwegian families with warts, molluscs and T cell dysfunction. H. Sorte.
2940T Mendelian genomics approach identifies novel disease causal genes for human immunological disorders. Y. Zhang.
2941F Frequency and effect of α-thalassemia mutations on the hematological phenotype in Mexican Mestizo patients with β-thalassemia. L.delC. Rizo de la Torre.
2942W Molecular analysis of a novel mutation (CD16 GGC→GGT) in the exon 1 region of the human β-globin gene, associated with an unexpectedly severe β thalassemia intermedia phenotype. F. Taghavifar.
2943T Uncovering the etiology of ICF syndrome: New disease genes and functional insight in the molecular processes underlying the immunodeficiency. S. M. van der Maarel.
2944F Carriers of the complex allele HFE c.[187C>G;340+4T>C] have increased risk of iron overload in São Miguel Island population (Azores, Portugal). L. Mota-Vieira.
2945W Coordinated regulation of splicing events within SLC12A3 and implications to Gitelman Syndrome. C. Mercado.
2946T Novel defects of FOG2/ZFPM2 including 3.2 Mb deletion lead to isolated 46, XY disorders of sex development and 46, XX ovarian dysfunction. D. Baetens.
2947F Phenotypic interaction between GH-releasing hormone (GHRH) receptor mutation detected by exome sequencing and non-classical congenital adrenal hyperplasia. I. Arnhold.
2948W Phenotypic spectrum from cerebral midline defects to hypopituitarism: Examples from HESX1 mutations. Q. Fang.
2949T Germline mutations identification in familial isolated prolactinoma through whole-exome sequencing. F. Melo.
2950F Examining the genetics of hereditary pancreatitis (HP) in adult patients with chronic pancreatitis. H. Azimi.
2951W Quantitative missense mutation profiling points to the root of phenotypic variability in Autosomal Dominant Polycystic Kidney Disease (ADPKD). V. G. Gainullin.
2952T Enzymatic properties of mouse chitotriosidase expressed in Escherichia coli. M. Kimura.
2953F Expression and characterization of catalytic domain of mouse AMCase in Escherichia coli . F. Oyama.
2954W A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. V. Alakbarzade.
2955T Transforming growth factor beta receptor stability and signaling in LTBP4-related cutis laxa. Z. Urban.
2956F The spectrum of NOTCH1 mutations in Adams-Oliver syndrome highlights an important role for the ligand-binding domain in disease etiology. L. Southgate.
2957W Mutations in human homologue of chicken talpid-3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Joubert and Jeune syndromes. M. Gunay-Aygun.
2958T N-linked glycosylation in renal and cardiac diseases: The role of ALG13 short isoform 2. T. Esposito.
2959F ASXL3 regulates H2A deubiqutination and gene transcription in Bainbridge-Ropers syndrome. S. Bielas.
2960W Identification of the molecular pathways affected by mutations in the lysine acetyltransferase, KAT6A and associations with phenotypic variability. V. A. Arboleda.
2961T Autosomal recessive Ehlers Danlos Syndrome in three patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A. Perritt.
2962F Learning pathophysiology of Alport syndrome from RNA-seq of podocytes differentiated from amniotic-fluid derived patient progenitors. A. M. Pinto.
2963W Genotype-dependent alterations in TGFβ signaling in ELN-related cutis laxa. S. Alkan.
2964T Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. M. Liu.
2965F The p.E229K variant in CYP1B1: mutation or polymorphism? G. Chavarria-Soley.
2966W The miR-34c is upregulated in α1-antitrypsin deficient livers, induces β-catenin activation and impairs liver zonation. P. Piccolo.
2967T Unique case of congenital diarrheal disorder with very short transit associated compound heterozygous variants of unknown significance in a gene related to myosin stability and function, UNC45A. A. Bourchany.
2968F The role of Filamin A in gastrointestinal developmental defects. M. M. Alves.
2969W Identification of de novo mutations in very early-onset inflammatory bowel disease (VEO-IBD). N. Dawany.
2970T Clinical spectrum of disease associated with POLG mutations. P. Arumugam.
2971F CCG•CGG interruptions within CTG•CAG expansion mutation increase disease penetrance in SCA8. B. A. Perez.
2972W Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. A. M. W. van den Ouweland.
2973T Novel Mutation Identified in the SCN1A (Channelopathy) Gene Associated with Acute Onset Ataxia, Dystonia, and Afebrile Seizures. M. Walke.
2974F Severe Optic Nerve and Chiasm Hypoplasia, Blindness, Autism and Cognitive Handicap Associated with BMP4 Mutation. P. Bitoun.
2975W A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. T. Han.
2976T Cell adhesion and migration defects in severe myopia associated with retinal dystrophy and cystic cerebellar dysplasia due to biallelic LAMA1 mutations. M. C. Malicdan.
2977F Identification of homozygous mutations in the CHRNG genes by whole exome sequencing in siblings presented with congenital arthrogryposis multiplex. G.-H. Kim.
2978W A family with Joubert and Meckel-Gruber Syndrome phenotypes associated with TMEM231 mutations. D. Maglic.
2979T Novel autosomal recessive intellectual disability syndrome with manganese deficiency, muscular hypotonia, and cerebellar atrophy caused by mutation of the SLC39A8 transporter. R. Abou Jamra.
2980F Increased STAG2 Dosage Defines a Novel Cohesinopathy with Intellectual Disability and Behavioural Problems. J. Gecz.
2981W Contribution of Copy Number Variation to the Genetic Etiology of Duane Retraction Syndrome. V. K. Robson.
2982T NAA10 missense mutations cause neurodevelopmental delay in eight female patients. C. Saunier.
2983F Characterization of SCN8A mutations and phenotypes in comparison to SCN1A. D. Chen.
2984W Whole exome sequencing identified a splice site mutation in ARV1 in a consanguineous family with intellectual disability, epilepsy and neurodegeneration. Y. Guo.
2985T TUBGCP4, encoding a member of the γ-tubulin ring complex γTuRC, is a novel gene for autosomal recessive microcephaly with chorioretinopathy (MCMR). H. J. Dollfus.
2986F A nonsense C12orf65 mutation in Indian-Jewish monozygotic female twins with Leigh syndrome. E. Imagawa.
2987W Linkage mapping and exome sequencing identifies a novel genetic cause of Charcot-Marie-Tooth neuropathy with pyramidal signs. M. L. Kennerson.
2988T Splicing of a 46bp sequence from central inton 9 of human FMR1 gene results in a truncted FRMP peptide with altered subcellular distribution and different functions when overexpressed. F. Lan.
2989F SOX10 Regulates an Alternative Promoter at the Charcot-Marie-Tooth Disease Locus MTMR2: Implications for a Nuclear Function in Schwann Cells. E. A. Fogarty.
2990W Inheritance of repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. K. N. McFarland.
2991T Rare Variant Identification in Saudi Children with Mendelian Neurologic Diseases. W. Charng.
2992F X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. M. Moyses-Oliveira.
2993W Identification and functional characterization of de novo FOXP1 variants in cases of autism, intellectual disability and language impairment. E. Sollis.
2994T Two patients diagnosed with BPAN in infancy. K. Takano.
2995F Comprehensive molecular diagnosis of 265 individuals addressed for Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy using targeted next generation sequencing. I. Perrault.
2996W Molecular analysis and prevalence of Huntington's Disease in northwest of Iran. M. Shekari Khaniani.
2997T Evidence that variants in PIGG cause intellectual disability with early onset seizures and hypotonia. P. Makrythanasis.
2998F Contribution of excitatory/inhibitory synaptic imbalance to MECP2, CDKL5 and FOXG1 related disorders. E. Landucci.
2999W Functional characterization of a large series of NKX2-1 variants in Brain-Lung-Thyroid syndrome reveals diverse molecular mechanisms of disorder. S. A. Graham.
3000T Pontine Tegmental Cap Dysplasia: a rare hindbrain malformation and the search of the genetic etiology. M. Herlin.
3001F Loss of function variants highlight potential candidate genes in patients with brain malformation and epilepsy. E. Karaca.
3002W DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from Southern Italy. M. Quadri.
3003T Expanding the Phenotype of Type XII Collagen Myopathy: Congenital Cataracts, Microcephaly, and Global Developmental Delay? G. E. Tiller.
3004F Somatic Mutations in mTOR and Tau pathways in Focal Cortical Dysplasia. F. Torres.
3005W Clinical and Genetic Analysis of 87 Chinese Patients with Pelizaeus-Merzbacher Disease. J. Wang.
3006T Systematic phenotype-based deconvolution of intellectual disability disorders into biologically coherent modules. C. Zweier.
3007F Synergistic activity of the DYT6-associated THAP1 protein and HCFC1 in regulating gene expression. L. Kötter.
3008W FOXC1 mutations and copy number variants in cases diagnosed with Primary Congenital Glaucoma. E. Souzeau.
3009T Whole exome sequencing of family trios identifies novel genes in children with Rett syndrome (RTT) phenotype. S. Rangasamy.
3010F TMEM38B/TRIC-B deficiency causes an Osteogenesis imperfecta-like bone dysplasia by dysregulation of ER calcium homeostasis and collagen biosynthesis. W. A. Cabral.
3011W Whole-Exome Sequencing Reveals Novel Gene Implicated in Multiple Epiphyseal Dysplasia and Primary Osteoarthritis. M. Czarny-Ratajczak.
3012T Bone Robusticity in Two Distinct Skeletal Dysplasias: an Evaluation of the Second Metacarpal, a Surrogate for Bone Strength. J. Marino.
3013F Variants in ACTC1 cause distal arthrogryposis: a new skeletal muscle phenotype for a cardiac muscle gene. C. T. Marvin.
3014W Analysis of a broad spectrum of mutations in the EXT1 and EXT2 genes in Brazilian patients with multiple osteochondromas. S. C. L. Santos.
3015T Novel FKBP10 mutation induces osteogenesis imperfecta type XI . S. Seyedhassani.
3016F Mutations spectrum of COL1A1/COL1A2 in Chinese with osteogenesis imperfecta. X. Zhao.
3017W Mutations in MYLPF cause a novel segmental amyoplasia manifest as distal arthrogryposis. K. M. Shively.
3018T Skeletal ciliopathies: A molecular study of 17 patients with Short-Rib Thoracic Dysplasia (SRTD). A. Hammarsjö.
3019F Molecular analysis of 24 Ellis van Creveld syndrome (EVC) individuals using targeted Next Generation Sequencing (NGS) and array CGH technology. C. Huber.
3020W SEC24D causes non-syndromic autosomal recessive osteogenesis imperfecta. S. Moosa.
3021T Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome. S. Symoens.
3022F Order of intron splicing is an important determinant of variant splice outcome in COL1A1. J. Schleit.
3023W Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. f. Azadegan Dehkordi.
3024T Mutation screening and in-depth bioinformatic analyses of the cathepsin C gene in an Indian family with Papillon-Lefevre syndrome. M. Raveendrababu.
3025F Recurrent de novo mutations affecting residue p.Arg138 of pyrroline-5-carboxylate synthase cause a novel progeroid form of autosomal dominant cutis laxa. B. L. Callewaert.
Genome structure, variation and function
3026T Single cell allele specific expression (ASE) in T21 and common trisomies: a novel approach to understand Down syndrome and common aneuploidies. G. Stamoulis.
3027F Investigation of Variants of Uncertain Significance Identified Through Exome Sequencing in 46,XY Disorders of Sex Development Using the C57BL/6J-YPOS Mouse Model. H. Barseghyan.
3028T The APOE Locus and MicroRNA in Alzheimer’s Disease. L. Bekris.
3029F A new method for the functional analysis of regulatory SNPs. H. Guillen Ahlers.
3030T Sequence variation affecting transcription factor occupancy in highly diverged mouse strains. M. T. Maurano.
3031F A high-throughput functional screening identifies non-canonical cis-regulatory sequences in the OCT4 Locus. Y. Shen.
3032T Genetic architecture of gene expression regulation via orthogonal tissue decomposition. H. E. Wheeler.
3033F Identifying compound heterozygous variants associated with gene expression. R. Brown.
3034T 2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment. A. P. W. Funnell.
3035F Functional footprinting of regulatory DNA. J. Vierstra.
3036T Deciphering the control of HLA-C expression using the 1000 genomes dataset. N. Vince.
3037F A large genomic deletion leads to enhancer adoption by the Lamin b1 gene: A second path to autosomal dominant leukodystrophy (ADLD). E. Giorgio.
3038T Analysis of transcriptional regulation by Dentatorubral-Pallidoluysian Atrophy protein (DRPLAp) that acts as transcriptional co-regulator. K. Hatano.
3039F SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins. A. Musio.
3040T Motif/Transcription factor prediction of brain expressed HERV-derived transcripts reveals enrichment of biological signature of transcriptional regulation. G. Guffanti.
3041F Post-GWAS identification of a PRSS1 promoter variant protecting against pancreatitis. A. Boulling.
3042T Understanding the regulatory network of chromosome 21 transcription factors. A. Letourneau.
3043F Developmental expression patterns and alternate splicing of human transcription factors. K. Siebenthall.
3044T Genetic and epigenetic signatures of gene regulation specific to type 2 diabetes-relevant tissues. J. P. Didion.
3045F Polymorphic Alu insertions with functional consequences may be the causative variant identified in GWAS. L. Horvath.
3046T Characterization of a Sjögren’s syndrome-associated long non-coding RNA at 2p25.1. J. A. Ice.
3047F Using miRNA expression profiling and sparse machine learning methods for diagnostics of inflammatory bowel disease. M. Huebenthal.
3048T Identification of novel lincRNAs in human adipose and peripheral blood mononuclear cells. C. Xue.
3049F Differential expression of microRNAs in breast cancer tumors associated to lymph node metastasis. E. Pérez-Moreno.
3050T microRNA expression profiling in breast cancer tumors associated to BRCA1 expression. V. A. Zavala.
3051F Genetic variations within microRNAs and microRNA binding sites influence the risk of Parkinson’s disease. M. Ghanbari.
3052T Non-coding RNA dysregulation in schizophrenia patients observed in the amygdala region based on RNA-sequencing. Y. Liu.
3053F MicroRNAs signature in PBMCs from first-treated tuberculosis patients in western China and their potential diagnostic role. M. Shang.
3054T Elucidating the role of miR-29a in fibroproliferative diseases. T. J. Creamer.
3055F Difference in plasma circulating free microRNAs between young and aged mice: A possible contribution of miR-1 on myogenic differentiation under a low temperature condition. M. Fukuoka.
3056T Genomic variation of mouse microRNAs. I. Hovatta.
3057F Mitochondrial miRNA profile in mtDNA-less cells. R. Li.
3058T DASHR - Database of small human non-coding RNA. Y. Y. Leung.
3059F Non-coding transcriptome of the developing mammalian retinal photoreceptors. L. Zelinger.
3060T Uncovering the mechanisms and the genetics of enhancer transcription activities via population-scale sequencing of nascent RNAs. H. Kwak.
3061F The identification of carboxy-terminal frameshift mutations and their role in human disease. J. White.
3062T Spatial and temporal dynamics of epitranscriptome in normal neurodevelopment and fragile X syndrome. F. Zhang.
3063F Identification and characterization of genetic determinants of RNA editing in humans. Y. Z. Kurmangaliyev.
3064T MTO1 inhibition impairs mitochondrial and cellular function in human cell lines. C. Chen.
3065F Analysis of RNA editing in non-human primates. M. Bozinoski.
3066T Alternative promoter usage in STK39 leads to distinct transcripts with human-specific 5’UTRs but identical protein isoforms as in mice. Y. Chang.
3067F Exploration of RNA editing sites in human retina and retinal pigment epithelium-choroid-sclera. D. Cho.
3068T Global binding map of the splicing regulatory factor SRSF5. G. H. Bruun.
3069F Sex Chromosome Dosage and the Human Transcriptome: A Study of XO, XX, XXX, XY, XXY, XYY and XXYY Karyotypes. A. Raznahan.
3070T Transcriptional consequences of 2q23.1 deletion syndrome in iPSC-derived neural progenitor cells provide insight into neurodevelopmental disorders and autism. S. V. Mullegama.
3071F Gene expression analysis of chitinase-like protein, YKL-40, with mammalian chitinases using qPCR in normal human tissues. M. Ohno.
3072T Positional coding and noncoding transcriptomes of synovial fibroblasts in joint specific patterns of arthritis. G. Russo.
3073F Systematic identification of cancer-testis genes in 20 cancer types: a source of epi-driver genes. Z. Hu.
3074T Genome specific transcriptional signatures predict differentiation biases in human ES/IPS cells. G. Stein-O'Brien.
3075F RNAseq based microRNA and transcriptome profiles of the rat hippocampus. A. Matos.
3076T Integrative analysis of RNA, translation and protein levels reveals distinct regulatory variation across humans. C. Cenik.
3077F Comparison of gene expression biomarker classifiers developed for use as an Alopecia Areata Disease Activity Index (ALADIN). J. E. Cerise.
3078T Method to Delineate and Confirm Genetically Distinct Cell Populations from Mosaic Individual Shows Differential Expression Related to Disease Pathway. C. M. Grochowski.
3079F Proteomic profile of dorsal and ventral dentate gyrus of a rat epilepsy model induced by electrical stimulation and displaying classical hippocampal sclerosis. A. Morato do Canto.
3080T RNAseq reveals distinct transcriptomic profiles of diverse cell populations within human skin. R. Ahn.
3081F NGS Library Preparation Method for Transcriptome Profiling With Enhanced Sensitivity of Transcript Detection. D. Rodriguez.
3082T Longevity and the transcriptome: Identifying gene expression changes in long-lived individuals. K. A. Mather.
3083F RNA-sequencing reveals novel candidate genes for Ring chromosome 20 syndrome. D. A. McEldrew.
3084T Global Gene Expression Profiling during Pregnancy. A. Mittal.
3085F Transcriptome analysis of CD4+ T cells in coeliac disease. C. Coleman.
3086T Transcriptomic analyses reveal sex-dependent expression differences in hundreds of genes and show an upregulation of immune response genes in women. A. Joensuu.
3087F Gene expression of PTK2B in peripheral blood is associated with cortical thickness in Alzheimer's disease. K. Nho.
3088T Dissection of Gene Expression Signatures of Recurrent Acute Pancreatitis Risk in Extreme Hypertriglyceridemia. K. Tremblay.
3089F Impact of Genetic Variation on upstream Open Reading Frame (uORF) Translation and Differential Gene Expression in Human Populations. Y. Wang.
3090T PennDiff: Detecting differential alternative splicing from RNA-Seq data. Y. Hu.
3091F Mesenchymal stem cells of patients with multiple myeloma have different epigenetic characteristics compared to normal bone marrow stem cells. M. Noruzinia.
3092T Transcriptome profiling of hypoxia tolerant heterozygous EdnrB mice reveals genes associated with cardiac contractility. T. Stobdan.
3093F The microbiota and interleukin-10 modulate the chromatin landscape and transcription in lamina propria macrophages and experimental colitis. J. M. Simon.
3094T Single-cell RNA-seq on pancreatic islets of Langerhans reveals different heterogeneity between non-diabetic and diabetic individuals. M. Garieri.
3095F Ultraconserved elements populate genomic regions disrupted in both cancers and neurodevelopmental disorders. R. B. McCole.
3096T Human umbilical vein endothelial cells response to shRNA-mediated knock down of ITPA gene in presence of nitric oxide. z. Abedi.
3097F Stimulating human CD4+ memory T cells uncovers cell state-dependent allelic expression enriched in risk genes for rheumatoid arthritis. M. Gutierrez-Arcelus.
3098T Elucidating the gene regulatory mechanisms that control the acute phase response using comparative genomics. M. Liang.
3099F Transcriptional and genetic regulatory response to anti-IL-6 treatment in system lupus erythematosus. E. E. Davenport.
3100T Aminoglycosides stress together with the mitochondria 12S rRNA 1494C>T mutation leads to mitophagy. J. Yu.
3101F RNA-sequencing in the DLPFC of schizophrenia patients and controls identifies novel differentially expressed transcripts originated in transposons. F. Macciardi.
3102T Senp1: A Genetic Driver of Hypoxia-Induced Polycythemia. P. Azad.
3103F Effects of hematopoietic stem cell transplant (HSCT) on the oral microbiome of patients with severe aplastic anemia. N. Ames.
3104T Analysis of mucosal adherent 16S rRNA reveals altered microbial composition and decreased diversity in patients with Crohn’s disease. N. M. Shahir.
3105F Role of Environment and Diet on Microbiome Composition in Diverse Rural Africans. M. A. Rubel.
3106T ABO antigen and secretor status are not associated with gut microbiota composition. E. R. Davenport.
3107F Rapid growth between birth and two years is associated with lower diversity in oral and gut microbiomes. S. J. C. Craig.
3108T 3D-NOME: an integrated 3-Dimensional NucleOme Modeling Engine for data-driven simulation of spatial genome organization. D. Plewczynski.
3109F In vitro and in vivo exploration of regulatory variation in melanocytes. M. B. Baker.
3110T Massive parallel sequencing revealed the conformational dynamics of the non-B form DNA at the promoter. H. Inagaki.
3111F Translational correlation of MeCP2 binding dynamics and clinical presentation of male patients with missense mutations. T. I. Sheikh.
3112T Topoisomerase II beta interacts with Ctcf and the cohesin complex at evolutionarily conserved points of genome control. L. Uusküla-Reimand.
3113F Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. K. D. Hansen.
3114T High Quality Next-Generation Sequencing Libraries for Sub-Nanogram Amounts of ChIP DNA. C. Couture.
3115F Whole genome sequencing identifies complex and balanced de novo structural variation in autism. D. Antaki.
3116T The copy number variation (CNV) database for autism spectrum disorder (ASD). X. Liu.
3117F Building a dosage map of the genome to assist in CNV interpretation. A. E. Hare.
3118T Mapping the “Dark Matter” of the Genome: Complex Structural Variations and Towards True Contiguity of de novo Assembly with NanoChannel Technology. H. Cao.
3119F Characterization of Common Maternal Copy Number Variations observed in Non-Invasive Prenatal Testing. Y. Sun.
3120T Copy Number Variation Associated With Bronchopulmonary Dysplasia. A. Ahmad.
3121F SMN2 copy number frequency in a sample of the Brazilian Population. M. Goncalves.
3122T Characterization of NAHR-mediated type-1 NF1 deletions with breakpoints within the PRS2 hotspot. H. Kehrer-Sawatzki.
3123F Whole-exome sequencing identifies a novel 2.5 kb duplication in INSR in a patient with Donohue syndrome. M. Schotik.
3124T Copy number variation in early-onset Alzheimer’s disease. M. N. Bamne.
3125F Copy number variant frequency and genomic diversity in the Danish population. M. Bertalan.
3126T DNA replication dynamics and its role in CNV instability. L. Chen.
3127F Identification of copy number variation in the genome of Japanese population. I. Danjoh.
3128T Copy Number Variation in Cynomolgus monkeys linked to tissue specific gene expression. A. R. Gschwind.
3129F High-Throughput Screening for Rare Copy Number Variants across a ~45,000 Subject Pediatric Biobank by qPCR. C. Kao.
3130T Phenome-wide Copy Number Burden Association on a Range of Phenotypes in 10,000 Participants from the eMERGE Network. D. Kim.
3131F Structural variation at the glycophorin locus from genome sequencing of Gambian trios. E. M. Leffler.
3132T Effects of copy number variable regions on the transcriptome and phenotypic variation in Finnish population-based cohorts. H. Mattsson.
3133F Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model. S. Miyatake.
3134T Understanding the genetic structure of FCGR genes region for Kawasaki disease using sequence capture of target fragments for long reads sequencing. E. Png.
3135F Genic intolerance to copy number variation in 60,000 individuals and applications to identifying risk genes in schizophrenia. D. Ruderfer.
3136T Complex structural variation in the MHC locus influences schizophrenia risk by shaping expression of complement component 4. A. Sekar.
3137F Copy number variant conferred risk of mental disorders in the Danish population. T. Sparsø.
3138T Comprehensive comparative performance analysis of high-resolution array platforms for genome-wide CNV detection in humans. A. Urban.
3139F A single rearrangement event resulting in two concomitant genomic disorders: the PMP22-RAI1 contiguous gene duplication syndrome. B. Yuan.
3140T Comprehensive breakpoint analyses for genomic disorders reveal the correlation of CNV size and complexity with clinical severity at the PLP1 locus. L. Zhang.
3141F Correlations between AMY1 copy number, diet and BMI in ethnically diverse African populations. K. E. Johnson.
3142T Customizable exon-centric target enrichment for copy number and targeted mutation detection. K. Jeong.
3143F Modifying DNA extraction protocol alters human brain copy number estimation. C. Proukakis.
3144T De Novo Copy Number Variation in Taiwanese Trios Affected by Schizophrenia. T. Poterba.
3145F Sequence analysis and characterization of active human Alu subfamilies. M. K. Konkel.
3146T Biochemical analysis of chimeric human and mouse AMCase proteins expressed in Escherichia coli. K. Okawa.
3147F Whole Genome Reference Panel of One Thousand Japanese Individuals and Bioinformatics in ToMMo. M. Nagasaki.
3148T EyeSeq - Toward a Comprehensive Genomic Research and Diagnosis Resource for Inherited Retinal Degenerations. L. Shen.
3149F Significance ranking of sequence variants in Parkinson Disease variant database. J. Vance.
3150T Distribution and clinical impact of functional variants in 31,000 whole exome sequences from the DiscovEHR study. F. Dewey.
3151F Analysis of structural variants in 2,200 whole-genome sequenced myocardial infarction cases and controls. E. M. Schmidt.
3152T Structural variants and obesity: Analysis of FTO intron 1 enhancer. S. S. Sundseth.
3153F COL4A3 Mutations Cause Focal Segmental Glomerulosclerosis. L. Hu.
3154T Long single-molecule RNA sequencing detects novel variants in humans. H. Yang.
3155F Survey of Human Cytomegalovirus Gene Polymorphism in Infants Infected Congenitally or Postnatally from Gunagzhou, China. H. Li.
3156T STR-Seq: a next generation technology for massively parallel microsatellite sequencing and genotyping. G. Shin.
3157F The importance of heterozygous protein truncating variants in the human genome. A. Telenti.
3158T Whole genome sequencing of six baboon species reveals high levels of polymorphism including extensive functional variation. M. Raveendran.
3159F Calling mitochondrial DNA (mtDNA) variants from whole exome sequencing data. P. Zhang.
3160T Sequencing and typing of HLA class I genes by using a single-molecule, real-time sequencing technology. Y. Kuroki.
3161F Linking Protein Annotation and Genome Variation in ClinGen Knowledge Base. P. McGarvey.
3162T Somatic mutation analysis in a healthy adult’s blood and sperm. C. Zeng.
3163F The Korean Reference Genome project: construction of the reference panel for imputation analysis. Y. Kim.
3164T Association study of TAF2 with aspirin exacerbated respiratory disease and FEV1 decline. J. Kim.
3165F An integrative computational workflow for eQTL analysis. N. Prodduturi.
3166T Fine-mapping red blood cell traits using eQTL in erythroblasts differentiated ex vivo from CD34+ hematopoietic stem cells. S. Lessard.
3167F Identification of rare and common variants associated with gene expression in a complex Amish pedigree. C. Brown.
3168T Characterizing regulatory variation using a panel of induced pluripotent stem cells. NE. Banovich.
3169F “Buffet-Style” eQTL Discovery: Assessing the Impact of PEER Adjustment on Replicability of Cis and Trans eQTL Associations in Whole Blood. P. J. Castaldi.
3170T Local epistasis between regulatory and coding variants contributes to disease in diverse human tissues. S. E. Castel.
3171F Induced pluripotent stem cells retain patient-specific gene expression patterns largely driven by cis-regulatory variation. G. E. Hoffman.
3172T Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci. H. Kirsten.
3173F The effects of human genetic variation on the gene regulatory cascade. Y. Li.
3174T Quantifying tolerance of genes to cis-regulatory variation from allelic expression data. P. Mohammadi.
3175F Characterizing and mitigating winner’s curse in expression quantitative trait loci (eQTL) studies. G. Darnell.
3176T Predicting tissue-specific gene expression by leveraging the genotype-tissue expression (GTEx) datasets. Z. Qi.
3177F Fine mapping of QTLs with heterogeneous subgroups, as illustrated in cross-tissue and cross-population eQTL analysis. X. Wen.
3178T Partitioning of genetic variation influencing gene expressoin by chromosome. J. Hall.
3179F Functional partitioning of local and distal gene expression regulation in multiple human tissues. X. Liu.
3180T Characterizing the role of STRs in gene regulation. D. Zielinski.
3181F Rare non-coding variation in a population isolate from Sardinia. M. Pala.
3182T Combining whole genome and RNA sequence data from multiple tissues to map causal eQTL using resampling methods. A. Brown.
3183F Genomic modulators of gene expression in human neutrophils. V. Naranbhai.
3184T Genetic variants affect expression of nearly all genes, but only in a specific context. P. Deelen.
3185F Identifying the effects of postmortem sample collection parameters on RNA-sequencing results across 1,640 samples. D. S. DeLuca.
3186T Rare regulatory variants cause cross-tissue extreme gene expression. X. Li.
3187F Genetic regulation of whole blood gene expression quantified in large families pedigrees. A. Viñuela.
3188T RNA:DNA hybrids and genome instability in post-mitotic neurons. V. Bhatia.
3189F Complex multiple-nucleotide substitution mutations causing human inherited disease reveal novel insights into the action of translesion synthesis DNA polymerases. J. M. Chen.
3190T Breakpoint analysis of 43 patients with complex genomic rearrangements and their mechanisms for formation. G. M. Novo-Filho.
3191F Development of a quantitative targeted RNA-Seq methodology for use in differential gene expression analysis. M. A. Hussong.
3192T A Microfluidic System for Generating Massively Partitioned and Barcoded DNA Sequencing Libraries. M. Schnall-Levin.
3193F The dynamics of meiotic recombination initiation in laboratory mouse strains. K. Brick.