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Platform Abstracts American Society of Human Genetics 66th Annual Meeting October 18–22, 2016 VANCOUVER, CANADA PLATFORM ABSTRACTS Tuesday, October 18, 5:00-6:20 pm: Abstract #’s Friday, October 21, 9:00-10:30 am, Concurrent Platform Session D: 2 Featured Plenary Abstract Session I Ballroom ABC, #1-#4 48 Mapping Cancer Susceptibility Alleles Ballroom A, West #189-#194 West Building Building 49 The Genetics of Type 2 Diabetes and Glycemic Ballroom B, West #195-#200 Wednesday, October 19, 9:00-10:30 am, Concurrent Platform Session A: Traits Building 6 Interpreting Variants of Uncertain Significance Ballroom A, West #5-#10 50 Chromatin Architecture, Fine Mapping, and Ballroom C, West #201-#206 Building Disease Building 7 Insights from Large Cohorts: Part 1 Ballroom B, West #11-#16 51 Inferring the Action of Natural Selection Room 109, West #207-#212 Building Building 8 Rare Germline Variants and Cancer Risk Ballroom C, West #17-#22 52 The Many Twists of Single-gene Cardiovascu- Room 119, West #213-#218 Building lar Disorders Building 9 Early Detection: New Approaches to Pre- and Room 109, West #23-#28 53 Friends or Foes? Interactions of Hosts and Room 207, West #219-#224 Perinatal Analyses Building Pathogens Building 10 Advances in Characterizing the Genetic Basis Room 119, West #29-#34 54 Novel Methods for Analyzing GWAS and Room 211, West #225-#230 of Autism Building Sequencing Data Building 11 New Discoveries in Skeletal Disorders and Room 207, West #35-#40 55 From Gene Discovery to Mechanism in Room 221, West #231-#236 Syndromic Abnormalities Building Neurological Disease Building 12 Obesity: It’s in Your Genes Room 211, West #41-#46 56 Genomes in the Clinic and Research: Room 302, West #237-#242 Building Patient-family-participant Perspectives Building 13 Functional Assessment of Cancer Susceptibility Room 221, West #47-#52 Regions Building Friday, October 21, 4:30-5:50 pm: 14 Gene Regulation Dynamics Across Tissues, Room 302, West #53-#58 66 Featured Plenary Abstract Session III Ballroom ABC, #243-#246 Contexts, and Time Building West Building Wednesday, October 19, 4:30-5:50 pm: Saturday, October 22, 9:00-10:00 am, Concurrent Platform Session E: 24 Featured Plenary Abstract Session II Ballroom ABC, #59-#62 71 Mapping Complex Traits in Ethnically Diverse Ballroom A, West #247-#250 West Building Cohorts Building Thursday, October 20, 9:00-10:30 am, Concurrent Platform Session B: 72 From Phenotypes to Gene Discovery Ballroom B, West #251-#254 Building 26 The Landscape of Genome Alterations in Ballroom A, West #63-#68 Cancer Building 73 Whole-exome and Whole-genome Sequencing: Ballroom C, West #255-#258 From Disease Gene Discovery to Diagnosis Building 27 Studies of Ancestry, Migration, and Admixture Ballroom B, West #69-#74 Building 74 The Clinical Impact of WES and WGS Room 109, West #259-#262 Building 28 Mechanisms of Gene Regulation Ballroom C, West #75-#80 Building 75 Improvements on NGS for the Clinic Room 119, West #263-#266 Building 29 Cancer Bioinformatics Room 109, West #81-#86 Building 76 The Phenotypic Implications of Gene Dosage Room 207, West #267-#270 and Regulation Building 30 Methods for Studying Rare Variants Room 119, West #87-#92 Building 77 Biomarkers and Somatic Cancer Diagnostics Room 211, West #271-#274 Building 31 Mutations, Mechanisms, and Model Systems Room 207, West #93-#98 Building 78 Neuropsychiatric Diseases of the Young and Room 221, West #275-#278 Old Building 32 Utilizing Constraint and Conservation for Room 211, West #99-#104 Functional Predictions Building 79 Diverse Model Systems for Teasing Out the Room 302, West #279-#282 Molecular Basis of Disease Building 33 Insights into the Genetic Basis of Eye Room 221, West #105-#110 Syndromes Building Saturday, October 22, 10:15-11:30 am, Concurrent Platform Session F: 34 Methods for Genome- and Transcriptome-Wide Room 302, West #111-#116 Association Studies Building 80 Studying Gene Expression and Genetic Ballroom A, West #283-#287 Variation in Cell Models Building Thursday, October 20, 11:00 am-1:00 pm, Concurrent Platform Session C: 81 NGS: Integration, Saturation, and Interpretation Ballroom B, West #288-#292 Building 35 Statistical Pleiotropy and Multiple Phenotypes: Ballroom A, West #117-#124 The More, The Merrier Building 82 Mosaicism and Disease Ballroom C, West #293-#297 Building 36 Insights from Large Cohorts: Part 2 Ballroom B, West #125-#132 Building 83 Gene Regulation and Cardiovascular Disease Room 109, West #298-#302 Building 37 Hereditary Cancer Diagnostics Ballroom C, West #133-#140 Building 84 Novel Discoveries in Mendelian Disease Room 119, West #303-#307 Building 38 Novel Findings from Genome-Wide Association Room 109, West #141-#148 Studies Building 85 Genetic Variation in Common Immune Disease Room 207, West #308-#312 Building 39 Digging Deep into Structural Variation Room 119, West #149-#156 Building 86 Methods for Variant Calling Room 211, West #313-#317 Building 40 The Molecular Basis of Genetic Syndromes Room 207, West #157-#164 Building 87 Diseases of the Nervous System Room 221, West #318-#322 Building 41 Interpreting the Transcriptome in Health and Room 211, West #165-#172 Disease Building 88 Characterizing the Processes of Recombination Room 302, West #323-#327 and Mutation Building 42 Craniofacial and Ocular Malformations Room 221, West #173-#180 Building Saturday, October 22, 12:00-1:00 pm: 43 Toward Therapeutic Discovery in Neurological Room 302, West #181-#188 89 ASHG Closing Plenary Symposium Ballroom B, West #3398-#3400 and Neuromuscular Disorders Building Building Copyright © 2016 The American Society of Human Genetics. All rights reserved. ASHG 2016 Abstracts 1 1 2 Disease heritability estimates using the electronic health records of 9 A genome-wide compendium and functional assessment of in vivo heart million patients. N. Tatonetti1, F. Polubriaginof1, K. Quinnies1, R. Vanguri1, A. enhancers. D.E. Dickel1, C.H. Spurrell1, I. Barozzi1, Y. Zhu1, Y. Fukuda-Yuza- Yahi1, M. Simmerling2, I. Ionita-Laza3, H. Salmasian4, S. Bakken1, K. Kiryluk5, wa1, M. Osterwalder1, B.J. Mannion1, I. Plajzer-Frick1, C.S. Pickle1, E. Lee1, T.H. D. Goldstein6, D. Vawdrey4. 1) Biomedical Informatics, Columbia University, Garvin1, M. Kato1, J.A. Akiyama1, V. Afzal1, A. Visel1,2,3, L.A. Pennacchio1,2. 1) New York, NY; 2) Division of Medical Ethics, Weill-Cornell Medical Center, Functional Genomics Department, Lawrence Berkeley National Lab, Berkeley, New York, NY; 3) Mailman School of Public Health, Columbia University, New CA; 2) U.S. Department of Energy Joint Genome Institute, Walnut Creek, CA; York, NY; 4) Value Institute, NewYork-Presbyterian Hospital, New York, NY; 5) 3) School of Natural Sciences, University of California, Merced, Merced, CA. Department of Medicine, Columbia University, New York, NY; 6) Institute for Whole genome sequencing is identifying growing numbers of noncoding Genomic Medicine, Columbia University, New York, NY. variants in human disease studies. However, the lack of accurate annotations The heritability of human disease is essential for diagnosis, treatment, and and an unclear understanding of the functional impact of noncoding sequence prognosis. Twin studies remain the gold standard for estimating the heritability variants largely prevent their interpretation. Focusing on the developing and of disease. However, even the largest study can evaluate only a small number adult heart, an organ whose functional impairment is a predominant cause of phenotypes. Electronic health records (EHRs) capture a wide range of of mortality and morbidity, we delineate the genome-wide landscape of dis- clinically relevant variables including continuous data (e.g. clinical laboratory tant-acting enhancers and highlight their functional importance through mouse test results) and dichotomous traits (e.g. disease diagnosis), representing a knock-out studies. We used integrative analysis of >35 epigenomic datasets novel resource for heritability studies. Using the emergency contact data pro- from mouse and human pre- and postnatal hearts to create a comprehensive vided by 9 million patients at two large academic medical centers, we inferred reference of >80,000 putative human heart enhancers. This compendium 4.7 million familial relationships and validated these relationships using both includes confidence scores for each candidate enhancer and can be easily in- clinical and genetic data sources. We then computed heritability and familial tersected with human disease data for downstream functional characterization recurrence rates for 663 clinical phenotypes from all major disease categories. of human WGS or GWAS variants. To understand the role of enhancers in the Heritability estimates showed high concordance across the two independent progression of human heart disease, we also profiled epigenomic and gene centers for both quantitative (rho = 0.85, p = 2.24e-08) and dichotomous traits expression differences between 18 normal human heart samples and 18 with (rho=0.75, p=8.98e-25). Heritability estimates from the EHR were significantly dilated cardiomyopathy (DCM). Our analysis reveals thousands of enhancers correlated with those reported in the literature with rho = 0.48, p = 0.024 and with disease-correlated activity changes, indicating and defining widespread rho = 0.44 and p = 0.011 at sites 1 and 2, respectively. When looking at sibling gene regulatory alterations associated with heart disease. To facilitate the use and familial recurrence, perinatal conditions are the most concordant (r2 = 0.94 of the genome-wide heart enhancer annotations in human disease studies, for sibling and 0.98 for familial) and the category of miscellaneous and unclas- we have made them available as a public resource on the VISTA Cardiac sified conditions was the least concordant (r2 = 0.04 for sibling and < 0.01 for Enhancer Browser (heart.lbl.gov). Finally, to demonstrate the importance of familial). Sibling recurrence and familial recurrence are highly correlated at enhancers to heart function and their impact on heart disease-associated eti- both medical centers (rho = 0.56, p = 1.00e-50 and rho = 0.58, p = 2.43e-60, ology, we deleted the mouse orthologs of two human enhancers near cardiac respectively).
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