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EGAS00001000016-sc-20110221 - samples

ABSTRACT: Gencode Exome Pilot

PROVIDER: EGAD00001000003 | EGA |

REPOSITORIES: EGA

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Publications

The GENCODE exome: sequencing the complete human exome.

Coffey Alison J AJ Kokocinski Felix F Calafato Maria S MS Scott Carol E CE Palta Priit P Drury Eleanor E Joyce Christopher J CJ Leproust Emily M EM Harrow Jen J Hunt Sarah S Lehesjoki Anna-Elina AE Turner Daniel J DJ Hubbard Tim J TJ Palotie Aarno A

European journal of human genetics : EJHG 20110302 7

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 annotation from the GENCODE consortium. The extended set covers an additional 5594 gen ...[more]

PMID: 21364695

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