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Cell. 2013 Sep 26;155(1):21-6. doi: 10.1016/j.cell.2013.09.001.

Distilling pathophysiology from complex disease genetics.

Author information

1
Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: aravinda@jhmi.edu.

Abstract

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.

PMID:
24074858
PMCID:
PMC4244836
DOI:
10.1016/j.cell.2013.09.001
[Indexed for MEDLINE]
Free PMC Article

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