Journal
ANNUAL REVIEW OF PUBLIC HEALTH, VOL 31
Volume 31, Issue -, Pages 9-20Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev.publhealth.012809.103723
Keywords
copy number; linkage disequilibrium; population stratification; single nucleotide polymorphism; whole genome
Categories
Funding
- NATIONAL CANCER INSTITUTE [R01CA088164, U01CA127298] Funding Source: NIH RePORTER
- NCI NIH HHS [R01 CA88164, U01 CA127298, R01 CA088164] Funding Source: Medline
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Genome-wide association studies (GWAS) provide an important avenue for undertaking an agnostic evaluation of the association between common genetic variants and risk of disease. Recent advances in our understanding of human genetic variation and the technology to measure such variation have made GWAS feasible. Over the past few years a multitude of GWAS have identified and replicated many associated variants. These findings are enriching our knowledge about the genetic basis of disease and leading some to advocate using GWA study results for genetic testing. For many of the GWA study results, however, the underlying mechanisms remain unclear and the findings explain only a limited amount of heritability. These issues may be clarified by more detailed investigations, including analyses of less common variants, sequence-level data, and environmental exposures. Such studies should help clarify the potential value of genetic testing to the public's health.
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