Article
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.
Science (New York, N.Y.) - 6 Jul 2012
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
Abstract excerpt
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 (1 every 17 bases)...
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