Article
The GENCODE exome: sequencing the complete human exome.
European journal of human genetics : EJHG - 1 Jul 2011
Coffey Alison J, Kokocinski Felix, Calafato Maria S, Scott Carol E, Palta Priit, Drury Eleanor, Joyce Christopher J, Leproust Emily M, Harrow Jen, Hunt Sarah, Lehesjoki Anna-Elina, Turner Daniel J, Hubbard Tim J, Palotie Aarno
Abstract excerpt
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits. So far, the most widely used commercial exome capture reagents have mainly targeted the consensus coding sequence (CCDS) database. We report the design of an extended set of targets for capturing the complete human exome, based on...
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