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A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Lim, Elaine T., Liu, Yangfan P., Chan, Yingleong, Tiinamaija, Tuomi, Käräjämäki, AnnMari, Madsen, Erik, Altshuler, David M., Raychaudhuri, Soumya, Groop, Leif, Flannick, Jason, Hirschhorn, Joel N., Katsanis, Nicholas, Daly, Mark J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4225638/
https://ncbi.nlm.nih.gov/pubmed/25439097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.09.015
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