ASHG 2. 01. 7 Meeting. Novel loci associated with skin pigmentation identified in African populations. N. Crawford, D. Kelly, M. Hansen, M. Holsbach Beltrame, S. Fan, S. Bowman, E. The Mind over Matter trope as used in popular culture. TelekinesisPsychokinesis the ability to move stuff andor people just by thinking. Although hand. Burmese pythons hungry escapades may have consequences for human health Date October 4, 2017 Source University of Florida Institute of Food and Agricultural Sciences. Human Thermodynamics HT the study of matter and energy transformations in human life processes. Jewett, A. Ranciaro, S. Thompson, S. Pfeifer, J. Google Freepik Human Evolution Vector' title='Google Freepik Human Evolution Vector' />Methods. We infused a single dose of a serotype8pseudotyped, selfcomplementary adenovirusassociated virus AAV vector expressing a codonoptimized human factor. Human Evolution Vector' title='Human Evolution Vector' />Transgenic History. A genetically modified organism GMO is an organism whose genetic material has been altered using techniques in genetics generally known as. Jensen, S. Wata Mpoloka, G. Mokone, T. Nyambo, D. Wolde Meskel, G. Belay, H. Rothschild, Y. Zhou, M. Kovacs, M. Xu, E. Freepik Vector Human Evolution Vector' title='Freepik Vector Human Evolution Vector' />Oceana, Y. Song, E. Eskin, K. Brown, M. Marks, S. Loftus, W. Pavan, M. Yeager, S. Chanock, S. Tishkoff. PM9 1. 5 PM5. Poster Talks. Room 3. A, Level 3, Convention Center. Moderators Beryl B. Cummings, ASHG 2. Program Committee  Olivia G. Corradin, ASHG 2. Program Committee. This session gives you a sneak peek at some of the top scoring posters across a variety of topics through rapid fire presentations. The featured abstracts were chosen by the Program Committee and are marked by a microphone in the online program. Conversations with the presenters will continue at the Poster Sessions throughout the meeting. Light refreshments will be provided. F   Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double strand break incidence. C. Gilissen, J. M. Goldmann, V. B. Seplyarskiy, W. S. W. Wong, T. Vilboux, D. L. Bodian, B. D. Solomon, J. A. Veltman, J. F. Deeken, J. E. Niederhuber. W   Ancestral disparities in genetic architecture of life course correlations between early growth and adulthood cardiometabolic disorders. F. Tekola Ayele, T. Workalemahu, A. Amare. W   Revealing transcriptome and methylome landscapes in a human oocyte by parallel sequencing. T. Lee, Y. Qian, J. Liao, L. Chi, G. Kong, C. Chung, T. Leung, K. Yip, K. Chow, W. Chan, T. Li. 5. 27. T   Maternal origin of familial 2. FSIQ scores. D. E. Mc. Ginn, T. B. Crowley, M. Unolt, B. S. Emanuel, E. H. Zackai, E. Moss, B. Morrow, J. Vermeesch, A. Swillen, D. M. Mc. Donald Mc. Ginn. T   Fine scale demography and behavior of male and female human geneticists. E. Glassberg, N. Telis, C. Gunter. 6. 10. W   WGS in pediatric neuroncology patients shows a preponderance of germline Mendelian disease gene mutations. M. Bainbridge, S. Nahas, L. Farnaes, D. Dimmock, D. Malicki, M. Bondy, S. Chowdhury, S. Kingsmore, J. Crawford, R. Wechsler Reya. 8. W   Clinical relevance of non coding A to I RNA editing in multiple human cancers. T. Gu, A. Fu, M. Bolt, K. White. 9. 92. T   Integrative omics analysis of a cohort of 1. J. Gecz, CL. van. Eyk, JL. Broadbent, K. Harper, A. Gardner, BW. Van Bon, MA. Corbett, A. Mac. Lennan. 1. 18. T   Lab. WAS A catalog of real world associations between genetic variants and lab values. J. A. Goldstein, L. A. Bastarache, P. Speltz, A. Gifford, D. M. Roden, J. C. Denny. F   Drug side effects and adverse events are predicted by genetics of their intended targets. P. A. Nguyen, A. Deaton, P. Nioi, L. D. Ward. W   Chromosomal integration of libraries of full length mutant genes with associated barcode tags. X. Jia, V. Chen, M. Maksutova, S. Jayakody, R. Lemons, J. Kitzman. F   Cis regulatory variation determines dynamic HLA DQB1 allelic expression in response to T cell activation. M. Gutierrez Arcelus, S. Hannes, N. Teslovich, Y. Luo, H. J. Westra, K. Slowikowski, D. A. Rao, J. Ermann, M. B. Brenner, S. Raychaudhuri. Cadillac Deville Owner Manual. F   Identification of genetically associated changes in 3. D chromatin architecture by leveraging haplotype information across a three generation family. W. W. Greenwald, H. Li, P. Benaglio, A. Schmitt, Y. Qiu, B. Ren, M. DAntonio, E. N. Smith, K. A. Frazer. F   A mutation in MAL is associated with a neurodevelopmental condition characterized by central hypomyelination, cerebellar atrophy and developmental delay. M. Elpidorou, J. A. Poulter, J. H. Livingston, E. Sheridan, C. A. Johnson. T   Changes of open chromatin regions reveal stage specific transcriptional network dynamics in human i. Digidesign Asio Driver Windows 7 there. PSC derived neurons. W. Moy, S. Zhang, H. Zhang, H. Mc. Gowan, J. Shi, C. Leites, A. R. Sanders, P. V. Gejman, J. Duan. 1. W   Mapping human airway smooth muscle cell transcriptional and epigenetic responses to asthma promoting cytokines reveals enrichments for asthma associated SNPs. E. E. Thompson, Q. Dang, B. Mitchell Handley, K. Rajendran, S. Ram Mohan, J. Solway, R. Krishnan, C. Ober. 1. 98. 8T   The genetic architecture of osteoarthritis Insights from UK Biobank. E. Zeggini, E. Zengini, K. Hatzikotoulas, I. Tachmazidou, J. Steinberg, S. Hackinger, U. Styrkarsdottir, D. Suveges, B. Killian, A. Gilly, T. Ingvarsson, H. Jonsson, G. Babis, U. Thorsteinsdottir, K. Stefansson, J. Wilkinson. T   Adaptive e. QTLs in human populations. M. Quiver, J. Lachance. W   Partitioning heritability of low frequency variants reveals relative strength of negative selection across functional annotations. S. Gazal, A. Ganna, A. Schoech, P. R. Loh, A. Gusev, T. Esko, A. Palotie, B. M. Neale, S. Sunyaev, H. K. Finucane, A. L. Price. 2. 51. 9T   Constitutive supernumerary marker chromosomes are the chromothripsis remnant of the supernumerary chromosome present in trisomic embryos. N. Kurtas, L. Leonardelli, L. Xumerle, M. Delledonne, A. Brusco, K. Chrzaowska, A. Schinzel, S. Guerneri, E. Manolakos, S. Giglio, T. Liehr, O. Zuffardi. T   High throughput discovery of deleterious cardiac sodium channel variants. A. Glazer, B. Kroncke, K. Matreyek, T. Yang, D. Fowler, D. Roden. T   Integrating e. QTL data with GWAS summary statistics identifies novel genes and pathways associated with schizophrenia. C. Wu, W. Pan. 2. W   DESCEND Expression distribution deconvolution in sc. RNA seq and characterization of transcriptional bursting and expression dispersion. J. Wang, N. Zhang, M. Li, A. Raj, J. Murray. Wednesday, October 1. AM1. 0 3. 0 AMConcurrent Platform Session A 6. Genetics of Vascular, Valvular, and Syndromic Disorders. Room 2. 20. B, Level 2, Convention Center. Moderators Guillaume Lettre, Montreal Heart Inst, Canada  Nabila Bouatia Naji, INSERMParis Cardiovasc Res Ctr, France. Functional characterization of modifier loci for Marfan syndrome reveals novel therapeutic strategies. R. D. Wardlow, J. J. Doyle, A. J. Doyle, N. K. Wilson, D. Bedja, H. C. Dietz. 69 1. Transcriptome analysis of mi. RNA and m. RNA in the PLJ mouse model of hypoxia induced pulmonary arterial hypertension. K. T. Ikeda, P. T. Hale, M. W. Pauciulo, N. Dasgupta, M. K. Pandey, W. C. Nichols. 79 3. Mechanistic interrogation of a gene by environment interaction informs the pathogenesis and treatment of Mendelian aneurysm disorders. N. K. Wilson, J. J. Doyle, E. Gallo Mac. Farlane, R. Bagirzadeh, G. Yazdanifar, D. Bedja, S. K. Cooke, H. C. Dietz, MIBAVA Leducq Consortium. Identification of a novel marker for valve maturation Loss of ADAMTS1. F. Wnnemann, A. Ta Shma, M P. Tremblay, C. Preuss, P. Vliet, S. Leclerc, E. Audain, S. Gerety, M. Hurles, W. Makalowski, O. Elpeleg, M P. Hitz, G. Andelfinger, MIBAVA Leducq Consortium. LTBP3 recessive mutations cause amelogenesis imperfecta as well as aortic diseases. D. Guo, E. Regalado, J. Chen, A. Pinard, C. Rigelsky, L. Zilberberg, E. Hostetler, S. Wallace, M. Bamshad, D. Nickerson, D. Rifkin, D. Milewicz, University of Washington Center for Mendelian Genomics, Seattle, WA. Identification of an autosomal recessive form of Noonan Syndrome. J. Johnston, J. J. Smagt, J. A. Rosenfeld, A. Alswaid, E. H. Baker, G. Borck, J. Brinkmann, W. Craigen, V. C. Dung, L. Emrick, D. B. Everman, K. L. van Gassen, S. Gulsuner, M. H. Harr, M. Jain, K. A. Leppig, D. M. Mc. Donald Mc. Ginn, C. T. B. Ngoc, E. R. Roeder, R. C. Rogers, J. C. Sapp, A. A. Schffer, D. Schanze, N. E. Verbeek, M. A. Walkiewicz, E. H. Zackai, M. Zenker, C. Zweier, B. Lee, L. G. Biesecker, Members of UDN.