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An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

Rare genetic variants contribute to complex disease risk; however, the abundance of rare variants in human populations remains unknown. We explored this spectrum of variation by sequencing 202 genes encoding drug targets in 14,002 individuals. We find rare variants are abundant (one every 17 bases)...

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I publikationen:Science
Huvudupphovsmän: Nelson, Matthew R., Wegmann, Daniel, Ehm, Margaret G., Kessner, Darren, St. Jean, Pamela, Verzilli, Claudio, Shen, Judong, Tang, Zhengzheng, Bacanu, Silviu-Alin, Fraser, Dana, Warren, Liling, Aponte, Jennifer, Zawistowski, Matthew, Liu, Xiao, Zhang, Hao, Zhang, Yong, Li, Jun, Li, Yun, Li, Li, Woollard, Peter, Topp, Simon, Hall, Matthew D., Nangle, Keith, Wang, Jun, Abecasis, Gonçalo, Cardon, Lon R., Zöllner, Sebastian, Whittaker, John C., Chissoe, Stephanie L., Novembre, John, Mooser, Vincent
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4319976/
https://ncbi.nlm.nih.gov/pubmed/22604722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1217876
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