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 phenotypes”, c...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3861317/
https://ncbi.nlm.nih.gov/pubmed/24349080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0081503
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