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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861317/
https://www.ncbi.nlm.nih.gov/pubmed/24349080
http://dx.doi.org/10.1371/journal.pone.0081503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861317/
https://www.ncbi.nlm.nih.gov/pubmed/24349080
http://dx.doi.org/10.1371/journal.pone.0081503

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