[HTML][HTML] Distilling pathophysiology from complex disease genetics
Cell, 2013•cell.com
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.
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.
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.
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