A gene-centric approach to genome-wide association studies
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作者:
Jorgenson, Eric
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机构:
Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USAUniv Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
Jorgenson, Eric
[1
]
Witte, John S.
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机构:Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
Witte, John S.
机构:
[1] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, Ctr Human Genet, San Francisco, CA 94143 USA
Genic variants are more likely to alter gene function and affect disease risk than those that occur outside genes. Variants in genes, however, might not be sufficiently covered by the existing approaches to genome-wide association studies. Our analysis of the HapMap ENCODE data indicates that this concern is valid, and that an alternative approach that focuses on genic variants provides a more complete coverage of functionally important regions and a greater genotyping efficiency. We therefore argue that resources should be developed to make gene-centric genome-wide association studies feasible.
机构:
Univ Milan, Angelo Bianchi Bonomi Hemophilia & Thrombosis Ctr, Mangiagalli & Regina Elena Fdn,Luigi Villa Fdn, IRCCS,Maggiore Hosp,Dept Med & Med Special, I-20122 Milan, ItalyUniv Milan, Angelo Bianchi Bonomi Hemophilia & Thrombosis Ctr, Mangiagalli & Regina Elena Fdn,Luigi Villa Fdn, IRCCS,Maggiore Hosp,Dept Med & Med Special, I-20122 Milan, Italy