Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

A single mutation can alter cellular and global homeostatic mechanisms and give rise to multiple clinical diseases. We hypothesized that these disease mechanisms could be identified using low minor allele frequency (MAF<0.1) non-synonymous SNPs (nsSNPs) associated with "mechanistic phenotype...

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Main Authors: Jonathan D Mosley, Sara L Van Driest, Emma K Larkin, Peter E Weeke, John S Witte, Quinn S Wells, Jason H Karnes, Yan Guo, Lisa Bastarache, Lana M Olson, Catherine A McCarty, Jennifer A Pacheco, Gail P Jarvik, David S Carrell, Eric B Larson, David R Crosslin, Iftikhar J Kullo, Gerard Tromp, Helena Kuivaniemi, David J Carey, Marylyn D Ritchie, Josh C Denny, Dan M Roden
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0081503&type=printable
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