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Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes.


ABSTRACT: We mapped ?85,000 rare nonsynonymous exonic single nucleotide polymorphisms (SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect-modulated startle eye blink. Nonsynonymous SNPs are predicted to directly change or disrupt proteins encoded by genes and are expected to have significant biological consequences. Most such variants are rare, and new technologies can efficiently assay them on a large scale. We assayed 247,870 mostly rare SNPs on an Illumina exome array. Approximately 85,000 of the SNPs were polymorphic, rare (MAF?

SUBMITTER: Vrieze SI 

PROVIDER: S-EPMC4231532 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes.

Vrieze Scott I SI   Malone Stephen M SM   Pankratz Nathan N   Vaidyanathan Uma U   Miller Michael B MB   Kang Hyun Min HM   McGue Matt M   Abecasis Gonçalo G   Iacono William G WG  

Psychophysiology 20141201 12


We mapped ∼85,000 rare nonsynonymous exonic single nucleotide polymorphisms (SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect-modulated startle eye blink. Nonsynonymous SNPs are predicted to directly change or disrupt proteins encoded by genes and are expected to have significant biological consequences. Most such variants are rare, and new technologies can efficiently assay them  ...[more]

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