期刊
NATURE REVIEWS GENETICS
卷 5, 期 8, 页码 589-597出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg1403
关键词
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Knowledge of inherited genetic variation has a fundamental impact on understanding human disease. Unfortunately, our understanding of the functional significance of many inherited genetic variants is limited. New approaches to assessing functional significance of inherited genetic variation, which combine molecular genetics, epidemiology and bioinformatics, promise to enhance reproducibility and plausibility of associations between genotypes and disease.
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