Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

A typical human exome harbors dozens of loss-of-function (LOF) variants(1), which can lower disease risk factor levels and affect drug efficacy(2). We hypothesized that LOF variants are enriched in genes influencing risk factor levels and the onset of common chronic diseases, such as cardiovascular...

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Bibliografske podrobnosti
izdano v:Nat Genet
Main Authors: Li, Alexander H, Morrison, Alanna C, Kovar, Christie, Cupples, L Adrienne, Brody, Jennifer A, Polfus, Linda M, Yu, Bing, Metcalf, Ginger, Muzny, Donna, Veeraraghavan, Narayanan, Liu, Xiaoming, Lumley, Thomas, Mosley, Thomas H, Gibbs, Richard A, Boerwinkle, Eric
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470468/
https://ncbi.nlm.nih.gov/pubmed/25915599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3270
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