A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Abstract
Although countless highly penetrant variants have been associated with Mendelian disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By mining the medical records of over 110 million patients, we examine the extent to which Mendelian variation contributes to complex disease risk. We detect thousands of associations between Mendelian and complex diseases, revealing a nondegenerate, phenotypic code that links...
Paper Details
Title
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Published Date
Sep 1, 2013
Journal
Volume
155
Issue
1
Pages
70 - 80
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