Reviewers' Choice Abstracts





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.

Cardiovascular Genetics


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.

Genetic Counseling


2207F‡   “Something extra on chromosome 5”: Couples’ understanding of positive prenatal chromosomal microarray analysis (CMA) results. B. A. Bernhardt.

Genetics/Genomics Education


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.

Metabolic Disorders


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.

Cancer Genetics


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.