This article is part of a special issue on exome sequencing.

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The functional spectrum of low-frequency coding variation

Gabor T Marth*, Fuli Yu, Amit R Indap, Kiran Garimella, Simon Gravel, Wen Fung Leong, Chris Tyler-Smith, Matthew Bainbridge, Tom Blackwell, Xiangqun Zheng-Bradley, Yuan Chen, Danny Challis, Laura Clarke, Edward V Ball, Kristian Cibulskis, David N Cooper, Bob Fulton, Chris Hartl, Dan Koboldt, Donna Muzny, Richard Smith, Carrie Sougnez, Chip Stewart, Alistair Ward, Jin Yu, Yali Xue, David Altshuler, Carlos D Bustamante, Andrew G Clark, Mark Daly, Mark DePristo, Paul Flicek, Stacey Gabriel, Elaine Mardis, Aarno Palotie, Richard Gibbs and the 1000 Genomes Project

Genome Biology 2011, 12:R84  doi:10.1186/gb-2011-12-9-r84

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