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American Society of Human Genetics 67Th Annual Meeting October 17–21, 2017 in Orlando, Florida

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American Society of Human Genetics 67Th Annual Meeting October 17–21, 2017 in Orlando, Florida American Society of Human Genetics 67th Annual Meeting October 17–21, 2017 in Orlando, Florida PLATFORM ABSTRACTS Tuesday, October 17, 5:30-7:00 pm: Abstract #'s 4 Featured Plenary Abstract Session I South Hall B #1-#4 Wednesday, October 18, 9:00-10:30 am, Concurrent Platform Session A: 6 Genetics of Vascular, Valvular, and Syndromic Disorders Room 220B #5-#10 7 Modeling Mega-cohorts: Insights & Innovation Room 220F #11-#16 8 Genetics and Epigenetics in Mental Illness Room 230C #17-#22 9 Genome Structure and Function: The Contribution of Mutations to Human Room 230G #23-#28 Genetic Diversity, Disease, and Evolution 10 Disease Gene Discovery Strategies Room 310A #29-#34 11 Therapeutic Advances in Mendelian Disease Room 310C #35-#40 12 Detection and Impact of Mosaicism in Human Disease Room 320 #41-#46 13 Pleiotropism and Penetrance in Cancer-causing Genes Room 330A #47-#52 14 Landscape of Cancer: Bioinformatic Analyses Room 330C #53-#58 Wednesday, October 18, 11:00 am-12:30 pm, Concurrent Platform Session B: 15 Screening Cancer Cohorts for Novel Germline Cancer Genes Room 220B #59-#64 16 Cancer Genetic Testing: Approaches, Barriers, and Psychosocial Impact Room 220F #65-#70 17 Advances in Association Analysis Room 230C #71-#76 18 Strategies for Variant Interpretation Room 230G #77-#82 19 From Association to Function for Cardiometabolic Traits Room 310A #83-#88 20 Reproductive Genetics: Detection, Treatment, and Natural History of Errors Room 310C #89-#94 21 Leveraging Human Knockouts to Understand Biology Room 320 #95-#100 22 Detection and Interpretation of Structural Variation Room 330A #101-#106 23 Neurodevelopmental Disorders: Causes and Mechanisms Room 330C #107-#112 Thursday, October 19, 9:00-10:30 am, Concurrent Platform Session C: 29 Gene Discovery in Skeletal Phenotypes Room 220B #113-#118 Repeats and Rearrangements: New Methods, Genes, and Mechanisms in 30 Room 220F #119-#124 Neurological Disease 31 Secondary and Incidental Findings from WES/WGS Room 230C #125-#130 32 Computational Methods for Causal Inference in Complex Traits Room 230G #131-#136 33 Microbiome, Variation, and Disease Room 310A #137-#142 34 Genetic Architecture of Neurological Traits Room 310C #143-#148 35 High Throughput Functional Analysis of Enhancers and Variants Room 320 #149-#154 36 Genetic Architecture of Rare Variants Across Diseases Room 330A #155-#160 37 Non-coding Variation and Epigenetic Effects in Cancer Room 330C #161-#166 Thursday, October 19, 11:00 am-12:30 pm, Concurrent Platform Session D: 38 Neuromuscular Disease Room 220B #167-#172 39 Advances in the Genetics of Autoimmune Disease Room 220F #173-#178 40 Defining High Risk in Cancer Room 230C #179-#184 41 Natural Selection on Human Phenotypes Room 230G #185-#190 42 Consumers and Health Care Providers: Perspectives of Genetic Technology Room 310A #191-#196 43 Gene Discovery and Functional Models of Intellectual Disability Room 310C #197-#202 44 Polygenic Risk Scores and Genetic Correlation in Complex Disease Room 320 #203-#208 45 Single Cell Omics Technologies Room 330A #209-#214 46 Sequencing in Neonatal and Pediatric Disorders Room 330C #215-#220 Friday, October 20, 9:00-10:00 am, Concurrent Platform Session E: 56 Genomic Testing: A Focus on Results Room 220B #221-#224 57 Exploring the Impact of Archaic Ancestry Room 220F #225-#228 58 Data Sharing to Improve Genomic Variant Interpretation Room 230C #229-#232 59 Congenital and Pediatric Heart Diseases Room 230G #233-#236 60 Transcriptomics in Complex Neurological/Neuropsychiatric Disease Room 310A #237-#240 61 Context Matters: Genes, Environment, and Sex (Part 1) Room 310C #241-#244 62 New Paradigms for Regulatory Variant Contribution to Disease Risk Room 320 #245-#248 63 Gene Expression Studies of T2D Room 330A #249-#252 64 Measuring Effects of Genetic Variants with High-Throughput Assays Room 330C #253-#256 Friday, October 20, 10:15-11:15 am, Concurrent Platform Session F: 65 DNA Methylation Room 220B #257-#260 66 Splicing in Complex Traits Room 220F #261-#264 67 Ocular Development and Disease Room 230C #265-#268 68 Blood Omics in Large Cohorts Room 230G #269-#272 69 Genetics of Addictive Behaviors Room 310A #273-#276 70 Context Matters: Genes, Environment, and Sex (Part 2) Room 310C #277-#280 71 Autism Room 320 #281-#284 72 Clinical Genomics in Cancer Room 330A #285-#288 73 Transcriptomic Analysis of Genetic Variation and Disease Room 330C #289-#292 Friday, October 20, 5:30-7:00 pm: 87 Featured Plenary Abstract Session II South Hall B #293-#296 Saturday, October 21, 8:30-9:30 am, Concurrent Platform Session G: 88 Functional Analyses of Cancer Genes Room 220B #297-#300 89 Modelling Candidate Disease Variants in Cellular and Animal Models Room 220F #301-#304 90 Cerebral Palsy and Epilepsy Room 230C #305-#308 91 Diverse Approaches to the Genetics of T2D Room 230G #309-#312 92 Population-based Diagnostic Sequencing Room 310A #313-#316 93 Identification and Function of Enhancers Room 310C #317-#320 94 Genetic Associations for Behavioral Phenotypes Room 320 #321-#324 95 Host-pathogen Interactions in the Genetics of the Immune System Room 330A #325-#328 96 Investigating the Role of Non-coding Variants in Disease Room 330C #329-#332 Saturday, October 21, 9:45-10:45 am, Concurrent Platform Session H: 97 Transcriptome-wide Association Studies Room 220B #333-#336 98 Improved Interpretation of Missense Variants Room 220F #337-#340 99 Big Data Approaches in Support of Population Studies Room 230C #341-#344 100 Novel Genetic and Environmental Contributions to Cancer Risk Room 230G #345-#348 101 Neurological Disorders: Chromatin in the Spotlight Room 310A #349-#352 102 Enhancers and Human Disease Room 310C #353-#356 103 The Genetics of Obesity Room 320 #357-#360 104 Advancing Drug Discovery by Genetic Analysis in Large Cohorts Room 330A #361-#364 105 Regulation of Gene Expression in Metabolic and Vascular Tissues Room 330C #365-#368 Saturday, October 21, 11:00 am-12:30 pm: 106 Featured Plenary Abstract Session III South Hall B #369-#372 Copyright © 2017 The American Society of Human Genetics. All rights reserved. ASHG 2017 Abstracts 1 1 2 Novel loci associated with skin pigmentation identified in African popu- An atlas of 8,342 mosaic structural variants reveals genetic drivers of lations. N. Crawford1, D. Kelly1,2, M. Hansen1, M. Holsbach Beltrame1, S. Fan1, clonal hematopoiesis. P. Loh1,2, G. Genovese2,3,4, R.E. Handsaker2,3,4, H.K. S. Bowman3,4, E. Jewett5,6, A. Ranciaro1, S. Thompson1, S. Pfeifer7, J. Jensen7, Finucane1,5, Y.A. Reshef6, P. Palamara1,2, B.M. Birmann7, S.F. Bakhoum8,9, S. Wata Mpoloka9, G. Mokone10, T. Nyambo11, D. Wolde Meskel12, G. Belay12, S.A. McCarroll2,3,4, A.L. Price1,2,10. 1) Department of Epidemiology, Harvard H. Rothschild13, Y. Zhou14,15, M. Kovacs16, M. Xu16, E. Oceana20, Y. Song5,6,21,22,23, T.H. Chan School of Public Health, Boston, MA; 2) Program in Medical and 24 16 3,4 17 17 18,19 E. Eskin , K. Brown , M. Marks , S. Loftus , W. Pavan , M. Yeager , S. Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; 3) 24 1,25 Chanock , S. Tishkoff . 1) Department of Genetics, Perelman School of Med- Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, icine, University of Pennsylvania, Philadelphia, PA 19104, USA; 2) Genomics Cambridge, MA; 4) Department of Genetics, Harvard Medical School, Boston, and Computational Biology Graduate Program, University of Pennsylvania, MA; 5) Department of Mathematics, Massachusetts Institute of Technology, Philadelphia, PA, 19104, USA; 3) Department of Pathology & Laboratory Med- Cambridge, MA; 6) Department of Computer Science, Harvard University, icine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA Cambridge, MA; 7) Channing Division of Network Medicine, Department 19104; 4) Department of Pathology & Laboratory Medicine and Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Phila- of Medicine, Brigham and Women’s Hospital and Harvard Medical School, delphia, PA 19104; 5) Department of EECS, University of California, Berkeley, Boston, MA; 8) Department of Radiation Oncology, Memorial Sloan Kettering CA, 94704; 6) Department of Statistics, University of California, Berkeley, CA, Cancer Center, New York, NY; 9) Sandra and Edward Meyer Cancer Center, 94704; 7) School of Life Sciences, Arizona State University, Tempe, AZ 85287; Weill Cornell Medicine, New York, NY; 10) Department of Biostatistics, Harvard 8) Department of Biology, Howard University, Washington D.C; 9) Department T.H. Chan School of Public Health, Boston, MA. of Biological Sciences, University of Botswana, Gaborone Botswana; 10) Clonal expansions of blood cells harboring somatic mutations are often Dept. of Biomedical Sciences, University of Botswana School of Medicine, observed in elderly individuals not known to have cancer (Forsberg et al. 2017 Gaborone, Botswana; 11) Department of Biochemistry, Muhimbili University Nat Rev Genet). The somatic mutations observed in clonal expansions are of Health and Allied Sciences, Dar es Salaam, Tanzania; 12) Department enriched at genes commonly mutated in cancer; accordingly, detectable clonal of Biology, Addis Ababa University, Addis Ababa, Ethiopia; 13) Stem Cell mosaicism is known to confer >10x increased risk of future hematological Program, Division of Hematology/Oncology, Pediatric Hematology Program, malignancy. However, the mechanisms that shape most clonal expansions in Boston Children's Hospital and Dana Farber Cancer Institute, Harvard Medical healthy individuals remain unknown, and the effects of specific somatic events School, Boston, MA 02115, USA; 14) Harvard Stem Cell Institute, Harvard on incident cancers have been unresolved by previous studies of up to ~1,000 University, Cambridge, MA 02138, USA; 15) Stem Cell Program, Division of detected mosaic events. Here we describe insights from an analysis of 8,342 Hematology/Oncology, Pediatric Hematology Program, Boston Children's mosaic structural variants (SVs) which we ascertained in genotyping intensity Hospital and Dana Farber Cancer Institute, Harvard Medical School, Boston, data from 151,202 UK Biobank participants.
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