Distilling Pathophysiology from Complex Disease Genetics

被引：58

作者：

Chakravarti, Aravinda ^{[1
]}

Clark, Andrew G. ^{[2
]}

Mootha, Vamsi K. ^{[3
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Baltimore, MD 21205 USA

[2] Cornell Univ, Ithaca, NY 14850 USA

[3] Massachusetts Gen Hosp, Boston, MA 02114 USA

来源：

CELL | 2013年 / 155卷 / 01期

关键词：

ENVIRONMENT INTERACTION; MUTATIONS; TRAITS; COMMON;

D O I：

10.1016/j.cell.2013.09.001

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Technologies for genome-wide sequence interrogation have dramatically improved our ability to identify loci associated with complex human disease. However, a chasm remains between correlations and causality that stems, in part, from a limiting theoretical framework derived from Mendelian genetics and an incomplete understanding of disease physiology. Here we propose a set of criteria, akin to Koch's postulates for infectious disease, for assigning causality between genetic variants and human disease phenotypes.

引用

页码：21 / 26

页数：6

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