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Platform Abstracts American Society of Human Genetics 65th Annual Meeting October 6–10, 2015 Baltimore, MD PLATFORM ABSTRACTS Wednesday, October 7, 9:50-10:30am Abstract #’s Friday, October 9, 2:15-4:15 pm: Concurrent Platform Session D: 4. Featured Plenary Abstract Session I Hall F #1-#2 46. Hen’s Teeth? Rare Variants and Common Disease Ballroom I #195-#202 Wednesday, October 7, 2:30-4:30pm Concurrent Platform Session A: 47. The Zen of Gene and Variant 15. Update on Breast and Prostate Assessment Ballroom III #203-#210 Cancer Genetics Ballroom I #3-#10 48. New Genes and Mechanisms in 16. Switching on to Regulatory Variation Ballroom III #11-#18 Developmental Disorders and 17. Shedding Light into the Dark: From Intellectual Disabilities Room 307 #211-#218 Lung Disease to Autoimmune Disease Room 307 #19-#26 49. Statistical Genetics: Networks, 18. Addressing the Difficult Regions of Pathways, and Expression Room 309 #219-#226 the Genome Room 309 #27-#34 50. Going Platinum: Building a Better 19. Statistical Genetics: Complex Genome Room 316 #227-#234 Phenotypes, Complex Solutions Room 316 #35-#42 51. Cancer Genetic Mechanisms Room 318/321 #235-#242 20. Think Globally, Act Locally: Copy 52. Target Practice: Therapy for Genetic Hilton Hotel Number Variation Room 318/321 #43-#50 Diseases Ballroom 1 #243-#250 21. Recent Advances in the Genetic Basis 53. The Real World: Translating Hilton Hotel of Neuromuscular and Other Hilton Hotel Sequencing into the Clinic Ballroom 4 #251-#258 Neurodegenerative Phenotypes Ballroom 1 #51-#58 22. Neuropsychiatric Diseases of Hilton Hotel Friday, October 9, 4:30-6:30pm Concurrent Platform Session E: Childhood Ballroom 4 #59-#66 54. Changing Landscape of Genomic Testing Ballroom I #259-#266 Thursday, October 8, 2:30-4:30pm, Concurrent Platform Session B: 55. Making Connections: From DNA 24. Going All In: Experimental Looping to eQTLs and Tissue-specific Characterization of Complex Trait Loci Ballroom I #67-#74 Regulation Ballroom III #267-#274 25. Powering Up Complex Trait Genetics Ballroom III #75-#82 56. Novel Genes, Novel Regulators, and 26. Hereditary Cancer Genes: Old and New Room 307 #83-#90 Monogenic Diseases Room 307 #275-#282 27. Advances in Epigenetics: What Would 57. New Thoughts about Neurodevelopment Waddington Say? Room 309 #91-#98 and Intellectual Disability Room 309 #283-#290 28. Adult-onset Neuropsychiatric Disease Room 316 #99-#106 58. Schizophrenia and Brain Development Room 316 #291-#298 29. The Ever-Changing Chromosome Room 318/321 #107-#114 59. Metabolic Traits and Disease: Discovery and Function Room 318/321 #299-#306 30. Connecting the Dots: Hard and Soft Hilton Hotel Tissue Syndromes Ballroom 1 #115-#122 60. The Ins and Outs of Blood Vessel Hilton Hotel Diseases Ballroom 1 #307-#314 31. Genetics/Genomics Education: From Hilton Hotel Pupils to Parents Ballroom 4 #123-#130 61. From Here to There: Reconstructing Hilton Hotel Human History Ballroom 4 #315-#322 Thursday, October 8, 5:00-7:00pm, Concurrent Platform Session C: Saturday, October 10, 8:55-10:15am 32. Human-wide Association Studies: More Genotypes, More Phenotypes, More 65. Featured Plenary Abstract Session II Hall F #323-#326 Diverse Populations Ballroom I #131-#138 33. Decoding Variants in Coding Regions Ballroom III #139-#146 Saturday, October 10, 10:30 am-12:30 pm 34. The Real Next Gen: Reproductive Concurrent Platform Session F: Genetics Room 307 #147-#154 66. Computing Functional Variants Ballroom I #327-#334 35. Genetic Problems of the Heart, Aorta, 67. Opening Up Big Data Ballroom III #335-#342 and Valves Room 309 #155-#162 68. Statistical Genetics: Analyze 36. Methods Matter: Approaches for Family-wise Room 307 #343-#350 Genomic Analysis Room 316 #163-#170 69. The Causes and Consequences of 37. Clinical Genetics: From Sequence to Evolutionary Change Room 309 #351-#358 Mechanism Room 318/321 #171-#178 70. Precision Cancer Sequencing Room 316 #359-#366 38. Clinical Impact of Genetic Variation Hilton Hotel 71. New Insights in Gene Regulation Room 318/321 #367-#374 Ballroom 1 #179-#186 72. Inborn Errors of Metabolism: Novel Hilton Hotel 39. Mendel and Beyond: Looking through Hilton Hotel Disorders, Models, and Observations Ballroom 1 #375-#382 Genome Sequences Ballroom 4 #187-#194 73. Intellectual Ability and Disability Hilton Hotel Ballroom 4 #383-#390 The following is a suggested style for citing ASHG 2015 Meeting abstracts-Example Only: Simpson R.S., Barnes P., Disruption of the microRNA pathway; (Abstract/Program #XX). Presented at the 65th Annual Meeting of The American Society of Human Genetics, Date, Location (e.g., October 7, 2015 in Baltimore, MD). The submitting author has copyright to the individual abstract, so permission to use material derived from the abstract (other than citation) must be obtained from that author. Copyright © 2015 The American Society of Human Genetics. All rights reserved. ASHG 2015 Abstracts 1 1 2 Massively parallel experimental analysis of missense mutations in Matrix metallopeptidase 21 (MMP21) is mutated in human hetero- BRCA1 for interpreting clinical variants of uncertain significance. taxy and is an essential determinant of vertebrate left-right asym- L.M. Starita1, M. Islam2, J. Gullingsrud1, S. Fields1, J.D. Parvin2,3, J. Shen- metry. A. Guimier1, 2, G.C. Gabriel3, F. Bajolle4, M. Tsang3, H. Liu5, A. dure1. 1) Department of Genome Sciences, University of Washington, Noll6, 7, L.D. Smith6, 7, S. Lyonnet1, 2, 9, L. de Pontual1, 2, S.A. Murray8, D. Seattle, WA; 2) Department of Biomedical Informatics, The Ohio State Bonnet2, 4, S.F. Kingsmore6, 7, J. Amiel1, 2, 9, P. Bouvagnet5, C.W. Lo3, C.T. University, Columbus, OH; 3) The Ohio State University Comprehensive Gordon1, 2. 1) Laboratory of embryology and genetics of congenital mal- Cancer Center, The Ohio State University, Columbus, OH. formations, INSERM UMR1163, Institut Imagine, Paris, France; 2) Paris Women inheriting a pathogenic mutation in the BRCA genes are at Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France; increased risk for developing breast and ovarian cancer. However, a 3) Department of developmental biology, University of Pittsburgh School substantial proportion of women who undergo BRCA1/2 testing learn of Medicine, Pittsburgh, PA, USA; 4) Unité Médico-Chirurgicale de Car- that they carry a variant of uncertain significance (VUS), whose conse- diologie Congénitale et Pédiatrique, Centre de référence Malformations quences for BRCA1/2 activity and therefore cancer risk are unknown. Cardiaques Congénitales Complexes - M3C, Hôpital Necker-Enfants Individuals harboring a VUS must make decisions about cancer preven- Malades, APHP, Paris, France; 5) Laboratoire de cardiogénétique - Hos- tion without clear information. A path towards addressing this failure in pices Civils de Lyon, Bron, France; EA 4173 Université Lyon 1 et Hôpital cancer-risk assessment and prevention is to experimentally measure the Nord Ouest, Lyon, France; 6) Center for Pediatric Genomic Medicine, functional consequences of all possible mutations in BRCA1/2, and to Departments of Pediatrics and Pathology, Children’s Mercy - Kansas make these measurements publicly available as a resource for guiding City, Kansas City, MO, USA; 7) University of Missouri - Kansas City variant interpretation. To this end, we are applying “deep mutational School of Medicine, Kansas City, MO, USA; 8) The Jackson Laboratory, scanning” (Fowler et al. Nature Methods 2010), a method in which the Bar Harbor, Maine, USA; 9) Service de Génétique, Hôpital Necker-En- effects of thousands of mutations in a single gene can be concurrently fants Malades, AP-HP, Paris, France. measured, to BRCA1. For example, we comprehensively evaluated the Heterotaxy (HT) results from a failure to establish normal left-right effects of >1,300 amino acid substitutions on the biochemical functions asymmetry (LRA) early in embryonic development and comprises vis- of the RING domain of BRCA1 (Starita et al. Genetics 2015) as well as ceral malformations among which congenital heart defects (CHDs) are the effects of nucleotide substitutions in exon 18 of BRCA1 on mRNA the major cause of morbidity and mortality. Mutations in several genes splicing (Findlay et al. Nature 2014). However, these studies were limited controlling early left–right patterning have been implicated in HT but ac- in that they incompletely assessed the function of BRCA1 that is most count for a minority of cases.We performed whole exome or genome physiologically relevant to its role in cancer risk. BRCA1 is required for sequencing in 2 families with recurrence of complex CHDs associated homology-directed repair (HDR) of double strand DNA breaks and this with laterality defects of abdominal organs. We identified compound function is required for tumor suppression. We have adapted a cellular heterozygous mutations (stop and missense or frameshift and exonic assay to test the HDR function of the full-length BRCA1 protein for deep deletion) in matrix metallopeptidase 21 (MMP21) in both families. MMP mutational scanning. Preliminary results show that we can distinguish family members are involved in extra-cellular matrix turnover. Interest- HDR-functional from nonfunctional BRCA1 variants a multiplexed for- ingly, mice homozygous for ENU-induced missense mutations in Mmp21 mat. We have now integrated thousands of BRCA1 missense variants exhibit CHDs and HT. We then performed next generation sequencing of into an HDR reporter cell line and are presently performing a large-scale MMP21 in a cohort of 264 index cases comprising
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