Article
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.
PloS one - 1 Jan 2013
Mosley Jonathan D, Van Driest Sara L, Larkin Emma K, Weeke Peter E, Witte John S, Wells Quinn S, Karnes Jason H, Guo Yan, Bastarache Lisa, Olson Lana M, McCarty Catherine A, Pacheco Jennifer A, Jarvik Gail P, Carrell David S, Larson Eric B, Crosslin David R, Kullo Iftikhar J, Tromp Gerard, Kuivaniemi Helena, Carey David J, Ritchie Marylyn D, Denny Josh C, Roden Dan M
Abstract excerpt
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 phenotypes", comprised of collections of related diagnoses. We studied two mechanistic phenotypes: (1) thrombosis, evaluated in a...
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