期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 93, 期 5, 页码 779-797出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2013.10.012
关键词
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资金
- Australian National Health and Medical Research Council [1021731, 1012023]
- National Breast Cancer Foundation Australia
- Cancer Research UK [C8197/A10865, C1287/A10118, C8197/A10123]
- Joseph Mitchell trust
- European Commission
- Cancer Research UK [16565] Funding Source: researchfish
- National Breast Cancer Foundation [ECF-12-04] Funding Source: researchfish
Genome-wide association studies (GWASs) have enabled the discovery of common genetic variation contributing to normal and pathological traits and clinical drug responses, but recognizing the precise targets of these associations is now the major challenge. Here, we review recent approaches to the functional follow-up of GWAS loci, including fine mapping of GWAS signal(s), prioritization of putative functional SNPs by the integration of genetic epidemiological and bioinformatic methods, and in vitro and in vivo experimental verification of predicted molecular mechanisms for identifying the targeted genes. The majority of GWAS-identified variants fall in noncoding regions of the genome. Therefore, this review focuses on strategies for assessing likely mechanisms affected by noncoding variants; such mechanisms include transcriptional regulation, noncoding RNA function, and epigenetic regulation. These approaches have already accelerated progress from genetic studies to biological knowledge and might ultimately guide the development of prognostic, preventive, and therapeutic measures.
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