435T Genome-wide analysis of DNA methylation identifies a novel locus associated with bone mineral density. J. A. Morris.
438F Lifestyle and biological age in a cohort study: Methylation age vs telomere length. A. Russo.
452F Methylation alterations of LINE-1 and imprinting genes related to folate deficiency during embryo development. L. Wang.
455T Analysis of monoallelic expression in 1084 human individual cells revealed novel putative imprinted genes. C. Borel.
458F Longitudinal differences in DNA methylation profile of twins reared apart and together. A. Ganna.
460F Integrative Methods to Characterize X Chromosome Inactivation Patterns in Epithelial Ovarian Cancer. S. Winham.
Therapy for Genetic Disorders
482W Systemic induced loss of NF1 in adult mouse is lethal. A. N. Turner.
492W Rescue of Diamond-Blackfan Anemia haploinsufficiency by knock-up of the deficient protein. I. Dianzani.
494W CRISPR-Cas9 Mediated Genome Editing of Myocilin in Hereditary Glaucoma. A. Jain.
498W Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome. S. Nakamura.
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.
526W Pathogenetic study at the intersection of Marfan syndrome and autosomal dominant polycystic kidney disease. D. Schepers.
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.
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.
559W Regulation of postprandial lipid homeostasis by TM6SF2 . N. Zaghloul.
572T Utilizing gene expression to uncover genotype-dependent effects of BMI in multiple tissues. C. A. Glastonbury.
576F Genome-wide association study identifies variants that predict survivorship in individuals with coronary artery disease. J. R. Dungan.
582F A genome-wide association study of ischemic stroke and its subtypes identifies a novel locus near TSPAN2. S. L. Pulit.
612F Genetic Causes for Congenital Heart Disease with Neurodevelopmental and Other Deficits. J. Homsy.
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.
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.
632T Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. B. Yu.
634W A phenome-wide scan to detect pleiotropic effects of the loss of function R46L variant in PCSK9. M. S. Safarova.
652W PCSK9 variants are associated with LDL-C response to statin therapy in African-Americans. Q. Feng.
658W Influence of genetic variability on platelet aggregation in clopidogrel-treated patients of the International Clopidogrel Pharmacogenomics Consortium (ICPC). J. Lewis.
662W A common missense variant of LILRB5 is associated with statin intolerance: A GoDARTS study. M. K. Siddiqui.
667T Pharmacogenetics of Acute Coronary Syndrome. P. Yin.
673T Meta-analysis of the genome wide association studies (GWAS) on the intolerance of angiotensin converting enzyme inhibitors (ACEIs). C. N. A. Palmer.
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.
683T Exome sequencing outperforms chip-based testing for clinically useful pharmacogenetic variant interrogation: Implications for preemptive pharmacogenetic evaluation. D. Ng.
Complex Traits and Polygenic Disorders
718F Rare variation association testing in inflammatory bowel disease, using low coverage whole genome sequences. K. M. de Lange.
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.
748F Whole Exome Sequence Meta-analysis of 13 White Blood Cell, Red Blood Cell, and Platelet Traits. L. M. Polfus.
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.
772F Epigenetic marks are strongly enriched in IBD fine-mapped variants. M. Umićević Mirkov.
778F A regulatory variant in the dopamine β-hydroxylase (DBH) gene is associated with nicotine dependence, smoking cessation, and pulmonary function. D. B. Hancock.
791W Large-scale integrative fine-mapping over 22 complex traits with over 3.3 million phenotypic measurements. G. Kichaev.
831T Capture Hi-C reveals a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. G. Orozco.
860W Identification of Novel Metabolic Syndrome Loci by Combining Univariate GWAS Summary Statistics of Multiple Phenotypes. R. M. Salem.
868F Novel method to estimate regional genetic associations improves genetic scores performance. G. Pare.
872W Chromatin regulatory circuitry defines inherited disease risk. O. Corradin.
873T The Inheritance of human lifespan in 20th Century Scotland. P. K. Joshi.
877F Bayesian analysis of polygenic effects on BMI. J. H. Zhao.
878W Comparison of Predictive Value of Genetic and Transcriptional Risk Scores. U. Marigorta.
884W Multi-level Genome-wide Association Study on Bone Geometry and Microstructures. X. Fu.
898F Identification of four novel risk loci and functional causative elements in nonsyndromic cleft lip with or without cleft palate. K. U. Ludwig.
905W Discovery of genetic associations underlying metabolically healthy obesity (MHO) and metabolically obese normal-weight (MONW). N. Y. Yang.
918T Novel rare and low frequency variants associated with lipoprotein subclasses and triglyceride measures. J. P. Davis.
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.
947W Amino acid variation in HLA class II proteins is a major determinant of humoral response to common viruses. C. Hammer.
949F Genetic association in narcolepsy suggests autoimmune origin. H.M. Ollila.
952F Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS. Q. Wang.
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.
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.
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.
1016W Correlation Between Genetic Ancestry Proportions and Thousands of Common Disease States in Admixed Populations. J. Jeff.
1020T Assessing the Genetic Predisposition of Education on Myopia: a Mendelian Randomization Study. G. Cuellar-Partdia.
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1048F Deletion in ABCA7 associated with Alzheimer’s disease in African Americans. H. N. Cukier.
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.
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.
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.
1106W No Evidence That Differences In Cortical DNA Methylation Contribute to Autism. S. Ellis.
1116T Autism gene discovery in rare female-enriched multiplex families (FEMFs). J. M. Tilghman.
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.
1149T The Alzheimer’s Disease Sequencing Project Discovery Phase: Case-Control Study Design, Progress, and Preliminary Results. J. C. Bis.
1162F Identification of five obsessive-compulsive disorder genes utilizing animal models, evolutionary constraints and regulatory information. H. Noh.
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.
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.
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.
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.
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.
Statistical Genetics and Genetic Epidemiology
1254W Can rare variants account for signals from common variants? F. Begum.
1257W Functional Regression Models for Gene-based Association Studies of Complex Traits. R. Fan.
1291T Tag SNP selection for low frequency variant imputation in populations of diverse ancestry. G. L. Wojcik.
1312T Identification of Causal Mechanisms in Diabetes Pathophysiology in the Risk of Primary Open-Angle Glaucoma. L. Shen.
1320W Genetically elevated fasting glucose levels and risk of hypertension in African Americans: a Mendelian randomization analysis. S. Tajuddin.
1326W A general and flexible framework for meta-analyzing dependent studies with overlapping subjects in association mapping. B. Han.
1330T Using the Coriell Personalized Medicine Collaborative to illustrate the challenges in translating GWAS results to clinical care. L. B. Scheinfeldt.
1359W Estimating clinical outcomes and classifying CFTR variants of unknown significance in children with a positive newborn screening for Cystic Fibrosis. D. Conti.
1362W Meta-Analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs. Z. Tang.
1373F Methodology for the analysis of multi-ethnic genome-wide association studies. J. P. Cook.
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.
1421F A Statistical Approach for Testing Gene by Microbiome Interactions. N. Zhao.
1434W Joint whole-genome analysis of associations between host and hepatitis C virus diversity in a patient cohort. V. Pedergnana.
Evolutionary and Population Genetics
1480T Insights into meiotic recombination from characterization of non-crossover and crossover events in a mouse humanized at PRDM9. R. Li.
1488T An unsteady molecular clock in primates. P. Moorjani.
1490T The effect of life history on the rate of the molecular clock and implications for great apes. G. Amster.
1497W Exploring variation in mosaicism and the mutation rate over time in the mammalian genome. S. J. Lindsay.
1522T Estimating The Selective Effect For Each Gene Using Large Scale Population Data. C. A. Cassa.
1535W Adaptation in global human populations has been hard, soft and polygenic. Z. A. Szpiech.
1539W Evolving ancestry: The shift in individual ancestry composition over time. D. R. Velez Edwards.
1543W Historical migrations and mating patterns affect the genetic landscape of the United States population today. R. Curtis.
1555W Bayesian Nonparametric Inference of Population Size Changes from Sequential Genealogies. J. Palacios.
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.
1579W Understanding germline mutation from multi-sibling families. R. Rahbari.
Bioinformatics and Genomic Technology
1595T Increased Statistical Power Using Informed Conditioning in Case-Control Studies. M. Bilow.
1598T An automatic next-generation sequencing analysis pipeline for family-based disease studies. R.-H. Chung.
1604T Leveraging tumor lineage trees to predict and genotype somatic structural variations using paired-end sequencing. I. Hajirasouliha.
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.
1616T Improving haplotype phasing accuracy using many short IBD segments. A. Kleinman.
1674F Homozygous and hemizygous deletion CNV detection from exome sequence in a Mendelian disease cohort. T. Gambin.
1678W A Multiple Feature Approach for Robust and Accurate Structural Variation Discovery for Whole Genome Sequencing Data of Varied Designs. L. C. Xia.
1686F Fast genome-wide assessment of the likelihood for variants being causal using only summary statistics. D. Lee.
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.
1703T Accurate quantification of allele-specific expression from single cell RNA-Seq data. K. Choi.
1708W Pleiotropic Variability Score: Quantifying Phenomic Associations of Genetic Variants. M. A. Badgeley.
1713F Realistic simulation of mutations for improving mutation assessment. A. D. Ewing.
1714W Evolutionarily Derived Networks to Inform Disease Pathways. B. E. Graham.
1723W Novel Approach for Correction of Cell-Type Heterogeneity Improves Power of Epigenome-Wide Association Studies. E. Rahmani.
1726W LAMPLINK: An additional function for PLINK to detect statistically significant genetic interactions. A. Terada.
1731F Varpipe: Whole Genome Variant Analysis in Minutes. A. Yao.
1733T Identifying the underlying causal variants in associated regions in multiethnic meta-analysis. A. B. Zhu.
1740F Augmenting public databases with ultra-deep clinical targeted sequencing data. E. A. Evans.
1746F Meta-analysis of Complex Diseases at Gene Level by Functional Regression. 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.
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.
1801W Toward assembly-based variation discovery from highly divergent regions. S. Tian.
1808T Towards reliably detecting structural variants with nanopore sequencing. A. L. Norris.
1812F Detecting Single Exon Deletions in Clinical Whole Exome Sequencing. T. Chiang.
1821F Utilization of PacBio long-read sequencing in comprehensive genomics. H. Doddapaneni.
1826T Accuracy of Variant detection in Next-generation sequencing: a comparison between exome and RNA seq. l. trotta.
1828W De novo and somatic indel variant analysis of whole genome and exome capture sequencing experiments with Scalpel. H. Fang.
1849W Interpreting a migraine GWAS using gene expression in healthy human brain. S. M. H. Huisman.
1859T A visual semantic similarity guided approach to variant prioritization and discovery in genome-wide diagnostics. R. James.
1867W Estimating Components of Heritability Explained by Gene Expression. L. J. O'Connor.
1873W Applications of long read sequencing: Human cDNA sequencing on the Oxford Nanopore MinIon. S. Goodwin.
1885W A Multi-Ethnic Genotyping Array for the Next Generation of Association Studies. C. R. Gignoux.
1891W Sequencing-based, megabase-scale haplotypes resolve the complex genomic structure of germline and primary cancer genomes. H. P. Ji.
1896F Single Tube, Whole Genome Phasing and Assembly using Bead-based Index Partitioning. F. Zhang.
1899F A recombination-based technology in Escherichia coli for cloning large and specific human DNA sequences. L. Brunelli.
1911F FlightDeck: a self-service web-portal for reproducible genomics research in the Cloud via Docker container. J. Kim.
Clinical Genetic Testing
1922T Sherloc: Evaluation of a Scalable Score-based Implementation of the ACMG 2015 Clinical Variant Interpretation Guidelines. M. Anderson.
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.
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.
1970T Whole Exome Sequencing and Whole Mitochondrial Genome Sequencing for the Molecular Diagnosis of Mitochondrial Disorders. R. Bai.
1974F Prevalence of incidental findings of potentially actionable variants in exome chip in the CHARGE consortium. M. K. Puurunen.
1976T An integrated approach to genetic diagnosis: Genomic research and clinical care at the TGen Center for Rare Childhood Disorders. A. M. Claasen.
1986F Performance of ACMG variant classification guidelines within and across 9 CLIA labs in the Clinical Sequencing Exploratory Research (CSER) Consortium. G. P. Jarvik.
1990W Case series of colorectal cancer patients with BRCA1/2 mutations: Finding actionable genes in patients with atypical presentations. K. Vikstrom.
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.
2041W The most variable region of the genome: The next generation of HLA-typing platforms. J. Kaur.
2050W Application of Serum miRNA Signature for Minimization of Immunosuppression and Diagnosis ofRejection Following Liver Transplantation. B. Keating.
2058F Exon targeted array CGH for identification of clinically relevant small sized, intragenic CNVs. A. Patel.
2062W ClinGen Actionability Working Group: Clinical Actionability in the context of Secondary Findings in Adults and Application to the ACMG 56. J. E. Hunter.
2081T The Emerging Need for Genetic Testing in Clinical Psychiatry. C. G. Bouwkamp.
2087T Detection of Translocations in Clinical Cancer Samples using Targeted NGS Data. S. Agrawal.
2096T Interpreting Exome Data Using Selection-Based Prioritization. J. T. Shieh.
Prenatal, Perinatal and Reproductive Genetics
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.
2113F Prostacyclin Synthase (PTGIS) interacts with nonsteroidal anti-inflammatory drugs (NSAIDs) to Protect from Miscarriage. M. J. Bray.
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.
2153F Delineating Epigenetic Dynmaics in Spermatogonial Stem Cell during Neonatal Development at Single-Base Resolution. TL. Lee.
Ethical, Legal, Social and Policy Issues in Genetics
2157T Consent, confidentiality, and information-sharing in genetic medicine: ways forward for the UK and beyond. S. Dheensa.
2164F Incidental findings; figures and hurdles of informed consent in a diagnostic setting. M. Kriek.
2171T Regulating Genome Editing Technologies: Towards a Proportional Approach. R. Isasi.
2174F Attitudes of genetics professionals and anthropologists toward race, ancestry, and genetics: results of a national survey. J. Yu.
2176F Crafting Tools to Engage the Public in Newborn Screening Policy. R. Ryan.
2192F Parental Views of Newborn Screening Using Next Generation Sequencing Technologies: Implications for Policy. G. Joseph.
2207F “Something extra on chromosome 5”: Couples’ understanding of positive prenatal chromosomal microarray analysis (CMA) results. B. A. Bernhardt.
2217F Best Practices in Genetic Cancer Risk Assessment: Delivery Models and Barriers in Community Settings. I. Solomon.
2221F A co-ordinated national approach to workforce transformation: Health Education England's Genomics Education Programme. A. Seller.
2227F Developing Online Learning Modules for Medical Genetics Residency Training. T. Wang.
Health Services Research
2250W Evaluation and Optimization of a Universal Lynch Syndrome Screening Program at Geisinger Health System. A. Kulchak Rahm.
2256W Integrating genomic medicine across a healthcare system. S. L. Hill.
2266F Toward identification of the pathogenic cell type driving calcification in pseudoxanthoma elasticum. S. G. Ziegler.
2271T A Zebrafish Knockout of Argininosuccinate Lyase Separates Ureagenic and Biosynthetic Functions. O. A. Shchelochkov.
2276F Clarifying the Phenotype of NGLY1 Deficiency, the First Congenital Disorder of Deglycosylation. C. Lam.
2301T Characterizing the genetic basis of Leigh Syndrome, the most common mitochondrial disorder affecting children. N. J. Lake.
2313T Mice lacking Cox10 in T-lymphocytes recapitulate the immune phenotype of a cohort of patients with primary mitochondrial disease. P. J. McGuire.
2330F Long term follow up of 17 patients with methylmalonic acidemiafollowing solid organ transplantation. J. L. Sloan.
2336F Topic: Mucopolysaccharidosis type IIID (Sanfilippo syndrome type D): Initial characterization of the murine model. M. Jamil.
2338F Whole-exome sequencing identifies ECHS1 mutations in Leigh syndrome.. M. Tetreault.
Clinical Genetics and Dysmorphology
2345T A genetic liability model explains the sex bias in neurodevelopmental disorders. A. Polyak.
2368W Delayed diagnosis in Turner syndrome is associated with social anxiety. C. McDougall.
2381T Increased Prevalence of Malignancy in Twins with 22q11.2 Deletion Syndrome. A. R. Schott.
2406F Analysis of the planar cell polarity regulator gene PTK7 in neural tube defects. Y. Lei.
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.
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.
2443W Next-generation sequencing uncovered unexpectedly high prevalence of neonatal Dubin-Johnson syndrome. T. Togawa.
2462T Mutations in SEC61A1 cause autosomal dominant interstitial kidney disorder associated with anemiaand growth retardation. C. Golzio.
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.
2477T Gynecologic and Obstetric Issues in a Large Cohort of Patients with Hermansky-Pudlak Syndrome. M. Merideth.
2480T Medical complications and functional issues in 122 pediatric patients with non-vascular Ehlers-Danlos syndrome. A. D. Kline.
2485W Clinical and Molecular Assessment of 78 OculoAuriculoVertebral Spectrum (OAVS [MIM 164210]) patients. S. Bragagnolo.
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.
2501F Molecular mechanisms of formation of insertional translocations. P. Stankiewicz.
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.
2524F Clinical Characteristics of Chromosome Microarray Studies. E. Purifoy.
2545W Transcriptional and translational dynamics of cell fate specification in pluripotent stem cells define the unique biology of individual human genomes. A. Jaishankar.
2553W A Forward Genetics Approach to Discover Modifiers of Holoprosencephaly and Cleft Lip/Palate. K. A. Geister.
2559W Genetic dissection of globozoospermia reveals a role for centrosomal proteins and regulation of the ubiquitin-proteasome system. E. C. Oh.
2570T Systematic identification of significantly mutated regions reveals a rich landscape of functional molecular alterations across cancer genomes. C. L. Araya.
2581W A comparative analysis of network mutationburdens across 21 tumor types predicts newcandidate cancer genes. H. Horn.
2600T Identifying inherited genetic variation associated with molecular phenotypes in colon cancer. D. Chang.
2604T Genetic propensity to allergic rhinitis is associated with sex-specific leukemia risk reduction in children. E. Elhauge.
2609W A common variant on 2q31.3 reduces lung cancer risk among light smokers: Transdisciplinary Research in Lung Cancer Consortium. S. Han.
2621W The genetics of gene expression in human pancreatic tissues. M. Zhang.
2623W Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. B. Swaminathan.
2626T Predicting breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers using common genetic variants. K. Kuchenbaecker.
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.
2696T Case analysis of advanced cancers with Watson Genomic Analytics. T. Koyama.
2699W Cis-regulatory drivers in colorectal cancer. H. Ongen.
2720T The Genomic Landscape of Allelic Imbalance in the Normal-Appearing Airway Field of Cancerization. H. Kadara.
2725W Racial differences in molecular cytogenetic abnormalities in consecutive black and white patients with multiple myeloma. Y. S. Zou.
2739W Systematic BRCA1/2 genetic testing in unselected epithelial ovarian cancer- results from the GTEOC study. M. Tischkowitz.
2773W Large scale rare variation case-control studies. Comparing rare variation landscapes in uveal and cutaneous melanoma. M. Artomov.
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.
2783W Exploring the regulatory roles of common variants associated with lung cancer subtypes. T. O'Brien.
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.
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.
2847T HA20: A novel autoinflammatory disease caused by haploinsufficiency of A20, encoded by TNFAIP3 . Q. Zhou.
2851F The UK 100,000 Genomes Project. K. Smith.
2852W Inherited disorders in apparently acquired severe aplastic anemia. B. J. Ballew.
2865T Mutation spectrum in a Pulmonary Arterial Hypertension (PAH) cohort and identification of associated truncating mutations in TBX4. C. Gonzaga-Jauregui.
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.
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.
2891W Systematic evaluation of patients with idiopathic short stature using whole exome sequencing. C. T. Thiel.
2910T De novo heterozygous GMNN mutations cause autosomal dominant primordial dwarfism associated with Meier-Gorlin syndrome. Y. Yang.
2922T Sequential sequencing approach elucidates high proportion of monogenic obesity cases in a consanguineous population. S. Saeed.
2931T Beyond the exome: Improving genetic diagnoses in Mendelian disease with whole genome and RNA sequencing. B. B. Cummings.
2951W Quantitative missense mutation profiling points to the root of phenotypic variability in Autosomal Dominant Polycystic Kidney Disease (ADPKD). V. G. Gainullin.
3007F Synergistic activity of the DYT6-associated THAP1 protein and HCFC1 in regulating gene expression. L. Kötter.
Genome structure, variation and function
3032T Genetic architecture of gene expression regulation via orthogonal tissue decomposition. H. E. Wheeler.
3035F Functional footprinting of regulatory DNA. J. Vierstra.
3043F Developmental expression patterns and alternate splicing of human transcription factors. K. Siebenthall.
3069F Sex Chromosome Dosage and the Human Transcriptome: A Study of XO, XX, XXX, XY, XXY, XYY and XXYY Karyotypes. A. Raznahan.
3074T Genome specific transcriptional signatures predict differentiation biases in human ES/IPS cells. G. Stein-O'Brien.
3090T PennDiff: Detecting differential alternative splicing from RNA-Seq data. Y. Hu.
3095F Ultraconserved elements populate genomic regions disrupted in both cancers and neurodevelopmental disorders. R. B. McCole.
3098T Elucidating the gene regulatory mechanisms that control the acute phase response using comparative genomics. M. Liang.
3109F In vitro and in vivo exploration of regulatory variation in melanocytes. M. B. Baker.
3112T Topoisomerase II beta interacts with Ctcf and the cohesin complex at evolutionarily conserved points of genome control. L. Uusküla-Reimand.
3117F Building a dosage map of the genome to assist in CNV interpretation. A. E. Hare.
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.
3141F Correlations between AMY1 copy number, diet and BMI in ethnically diverse African populations. K. E. Johnson.
3145F Sequence analysis and characterization of active human Alu subfamilies. M. K. Konkel.
3150T Distribution and clinical impact of functional variants in 31,000 whole exome sequences from the DiscovEHR study. F. Dewey.
3159F Calling mitochondrial DNA (mtDNA) variants from whole exome sequencing data. P. Zhang.
3168T Characterizing regulatory variation using a panel of induced pluripotent stem cells. NE. Banovich.
3171F Induced pluripotent stem cells retain patient-specific gene expression patterns largely driven by cis-regulatory variation. G. E. Hoffman.
3174T Quantifying tolerance of genes to cis-regulatory variation from allelic expression data. P. Mohammadi.
3184T Genetic variants affect expression of nearly all genes, but only in a specific context. P. Deelen.
3188T RNA:DNA hybrids and genome instability in post-mitotic neurons. V. Bhatia.