Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding genes to an average median depth of 111× in 2440 individuals of European (n = 1351) and African (n = 1088) ancestry. We identified over 500,000 single-nucleotide v...

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Detalhes bibliográficos
Main Authors: Tennessen, Jacob A., Bigham, Abigail W., O'Connor, Timothy D., Fu, Wenqing, Kenny, Eimear E., Gravel, Simon, McGee, Sean, Do, Ron, Liu, Xiaoming, Jun, Goo, Kang, Hyun Min, Jordan, Daniel, Leal, Suzanne M., Gabriel, Stacey, Rieder, Mark J., Abecasis, Goncalo, Altshuler, David, Nickerson, Deborah A., Boerwinkle, Eric, Sunyaev, Shamil, Bustamante, Carlos D., Bamshad, Michael J., Akey, Joshua M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3708544/
https://ncbi.nlm.nih.gov/pubmed/22604720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1219240
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