期刊
NATURE REVIEWS GENETICS
卷 15, 期 11, 页码 722-733出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3747
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资金
- Higher Education Funding Council for England (HEFCE)
- Medical Research Council
- Medical Research Council [MC_UU_12013/1-9]
- US National Institutes of Health [GM057091]
- UK Medical Research Council
- Biotechnology and Biological Sciences Research Council
- BBSRC [BBS/E/D/20211553, BB/H024484/2] Funding Source: UKRI
- MRC [MC_PC_U127592696, MC_UU_12013/1] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BBS/E/D/20211553, BB/H024484/2] Funding Source: researchfish
- Medical Research Council [MC_UU_12013/1, MC_PC_U127592696] Funding Source: researchfish
Genome-wide association studies (GWASs) have become the focus of the statistical analysis of complex traits in humans, successfully shedding light on several aspects of genetic architecture and biological aetiology. Single-nucleotide polymorphisms (SNPs) are usually modelled as having additive, cumulative and independent effects on the phenotype. Although evidently a useful approach, it is often argued that this is not a realistic biological model and that epistasis (that is, the statistical interaction between SNPs) should be included. The purpose of this Review is to summarize recent directions in methodology for detecting epistasis and to discuss evidence of the role of epistasis in human complex trait variation. We also discuss the relevance of epistasis in the context of GWASs and potential hazards in the interpretation of statistical interaction terms.
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