Assessing the function of genetic variants in candidate gene association studies

被引：131

作者：

Rebbeck, TR

Spitz, M

Wu, XF

机构：

[1] Univ Penn, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA

[2] Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[3] Univ Texas, MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA

来源：

NATURE REVIEWS GENETICS | 2004年 / 5卷 / 08期

关键词：

D O I：

10.1038/nrg1403

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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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页码：589 / 597

页数：9

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