Unravelling the human genome-phenome relationship using phenome-wide association studies

被引：189

作者：

Bush, William S. ^{[1
]}

Oetjens, Matthew T. ^{[2
]}

Crawford, Dana C. ^{[1
]}

机构：

[1] Case Western Reserve Univ, Inst Computat Biol, Dept Epidemiol & Biostat, Wolstein Res Bldg,2103 Cornell Rd, Cleveland, OH 44106 USA

[2] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

NATURE REVIEWS GENETICS | 2016年 / 17卷 / 03期

关键词：

ELECTRONIC MEDICAL-RECORDS; BODY-MASS INDEX; GENETIC EPIDEMIOLOGY RESEARCH; RESEARCH-PROJECT; HEALTH RECORDS; ATRIAL-FIBRILLATION; MULTIPLE-SCLEROSIS; AUTOIMMUNE-DISEASE; ACTINIC KERATOSIS; PLEIOTROPY SCAN;

D O I：

10.1038/nrg.2015.36

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Advances in genotyping technology have, over the past decade, enabled the focused search for common genetic variation associated with human diseases and traits. With the recently increased availability of detailed phenotypic data from electronic health records and epidemiological studies, the impact of one or more genetic variants on the phenome is starting to be characterized both in clinical and population-based settings using phenome-wide association studies (PheWAS). These studies reveal a number of challenges that will need to be overcome to unlock the full potential of PheWAS for the characterization of the complex human genome-phenome relationship.

引用

页码：129 / 145

页数：17

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