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Properties and Modeling of GWAS when Complex Disease Risk Is Due to Non-Complementing, Deleterious Mutations in Genes of Large Effect

Current genome-wide association studies (GWAS) have high power to detect intermediate frequency SNPs making modest contributions to complex disease, but they are underpowered to detect rare alleles of large effect (RALE). This has led to speculation that the bulk of variation for most complex diseas...

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Detalles Bibliográficos
Autores principales: Thornton, Kevin R., Foran, Andrew J., Long, Anthony D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578756/
https://www.ncbi.nlm.nih.gov/pubmed/23437004
http://dx.doi.org/10.1371/journal.pgen.1003258

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