Article
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Science (New York, N.Y.) - 6 Jul 2012
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
Abstract excerpt
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 variants (SNVs), the majority of which were rare (86% with a minor allele frequency less than 0.5%), previously...
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