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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup: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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