Article
Targeted capture and massively parallel sequencing of 12 human exomes.
Nature - 10 Sept 2009
Ng Sarah B, Turner Emily H, Robertson Peggy D, Flygare Steven D, Bigham Abigail W, Lee Choli, Shaffer Tristan, Wong Michelle, Bhattacharjee Arindam, Eichler Evan E, Bamshad Michael, Nickerson Deborah A, Shendure Jay
Abstract excerpt
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common diseases, raising the question of whether rare variants account for a significant fraction of unexplained heritability. Although DNA sequencing costs have fallen marked...
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