Distilling Pathophysiology from Complex Disease Genetics

  title={Distilling Pathophysiology from Complex Disease Genetics},
  author={Aravinda Chakravarti and Andrew G. Clark and Vamsi K. Mootha},
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… CONTINUE READING
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