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In search of rare variants: Preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes
dc.contributor.authorVrieze, Scott I.en_US
dc.contributor.authorMalone, Stephen M.en_US
dc.contributor.authorVaidyanathan, Umaen_US
dc.contributor.authorKwong, Alanen_US
dc.contributor.authorKang, Hyun Minen_US
dc.contributor.authorZhan, Xiaoweien_US
dc.contributor.authorFlickinger, Matthewen_US
dc.contributor.authorIrons, Danielen_US
dc.contributor.authorJun, Gooen_US
dc.contributor.authorLocke, Adam E.en_US
dc.contributor.authorPistis, Giorgioen_US
dc.contributor.authorPorcu, Eleonoraen_US
dc.contributor.authorLevy, Shawnen_US
dc.contributor.authorMyers, Richard M.en_US
dc.contributor.authorOetting, Williamen_US
dc.contributor.authorMcGue, Matten_US
dc.contributor.authorAbecasis, Goncaloen_US
dc.contributor.authorIacono, William G.en_US
dc.date.accessioned2014-12-09T16:53:57Z
dc.date.availableWITHHELD_13_MONTHSen_US
dc.date.available2014-12-09T16:53:57Z
dc.date.issued2014-12en_US
dc.identifier.citationVrieze, Scott I.; Malone, Stephen M.; Vaidyanathan, Uma; Kwong, Alan; Kang, Hyun Min; Zhan, Xiaowei; Flickinger, Matthew; Irons, Daniel; Jun, Goo; Locke, Adam E.; Pistis, Giorgio; Porcu, Eleonora; Levy, Shawn; Myers, Richard M.; Oetting, William; McGue, Matt; Abecasis, Goncalo; Iacono, William G. (2014). "In search of rare variants: Preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes." Psychophysiology (12): 1309-1320.en_US
dc.identifier.issn0048-5772en_US
dc.identifier.issn1469-8986en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/109628
dc.description.abstractWhole genome sequencing was completed on 1,325 individuals from 602 families, identifying 27 million autosomal variants. Genetic association tests were conducted for those individuals who had been assessed for one or more of 17 endophenotypes ( N range = 802–1,185). No significant associations were found. These 27 million variants were then imputed into the full sample of individuals with psychophysiological data ( N range = 3,088–4,469) and again tested for associations with the 17 endophenotypes. No association was significant. Using a gene‐based variable threshold burden test of nonsynonymous variants, we obtained five significant associations. These findings are preliminary and call for additional analysis of this rich sample. We argue that larger samples, alternative study designs, and additional bioinformatics approaches will be necessary to discover associations between these endophenotypes and genomic variation.en_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherWhole Genome Sequencingen_US
dc.subject.otherPsychophysiologyen_US
dc.subject.otherEndophenotypeen_US
dc.subject.otherEEGen_US
dc.subject.otherAntisaccadeen_US
dc.subject.otherStartleen_US
dc.subject.otherP300en_US
dc.subject.otherRare Varianten_US
dc.titleIn search of rare variants: Preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypesen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelPhysiologyen_US
dc.subject.hlbsecondlevelPsychologyen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/109628/1/psyp12350.pdf
dc.identifier.doi10.1111/psyp.12350en_US
dc.identifier.sourcePsychophysiologyen_US
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