Journal
NATURE REVIEWS GENETICS
Volume 10, Issue 5, Pages 318-329Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2544
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Funding
- Tufts Clinical and Translational Science Institute (Tufts CTSI)
- National Institute of Health/National Center for Research Resources [UL1 RR025752]
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR025752] Funding Source: NIH RePORTER
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Studies using genome-wide platforms have yielded an unprecedented number of promising signals of association between genomic variants and human traits. This Review addresses the steps required to validate, augment and refine such signals to identify underlying causal variants for well-defined phenotypes. These steps include: large-scale exact replication across both similar and diverse populations; fine mapping and resequencing; determination of the most informative markers and multiple independent informative loci; incorporation of functional information; and improved phenotype mapping of the implicated genetic effects. Even in cases for which replication proves that an effect exists, confident localization of the causal variant often remains elusive.
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