Distilling Pathophysiology from Complex Disease Genetics | Zendy

Aravinda Chakravarti | Zendy; Andrew G. Clark | Zendy; Vamsi K. Mootha | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Distilling Pathophysiology from Complex Disease Genetics

Author(s) -

Aravinda Chakravarti,

Andrew G. Clark,

Vamsi K. Mootha

Publication year - 2013

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2013.09.001

Subject(s) - biology , mendelian inheritance , disease , causality (physics) , genetics , human disease , limiting , phenotype , human genetics , computational biology , evolutionary biology , gene , medicine , pathology , mechanical engineering , physics , quantum mechanics , engineering

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research