Article
The functional spectrum of low-frequency coding variation.
Genome biology - 14 Sept 2011
Marth Gabor T, Yu Fuli, Indap Amit R, Garimella Kiran, Gravel Simon, Leong Wen Fung, Tyler-Smith Chris, Bainbridge Matthew, Blackwell Tom, Zheng-Bradley Xiangqun, Chen Yuan, Challis Danny, Clarke Laura, Ball Edward V, Cibulskis Kristian, Cooper David N, Fulton Bob, Hartl Chris, Koboldt Dan, Muzny Donna, Smith Richard, Sougnez Carrie, Stewart Chip, Ward Alistair, Yu Jin, Xue Yali, Altshuler David, Bustamante Carlos D, Clark Andrew G, Daly Mark, DePristo Mark, Flicek Paul, Gabriel Stacey, Mardis Elaine, Palotie Aarno, Gibbs Richard
Abstract excerpt
BACKGROUND: Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population samples. Recent studies show that variants altering amino acid sequence and protein function are enriched at low variant allele frequency, 2 to 5%, but because of insufficient sample size it is not clear if the same trend holds for rare...
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