Article
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk.
Cell - 26 Sept 2013
Blair David R, Lyttle Christopher S, Mortensen Jonathan M, Bearden Charles F, Jensen Anders Boeck, Khiabanian Hossein, Melamed Rachel, Rabadan Raul, Bernstam Elmer V, Brunak Søren, Jensen Lars Juhl, Nicolae Dan, Shah Nigam H, Grossman Robert L, Cox Nancy J, White Kevin P, Rzhetsky Andrey
Abstract excerpt
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...
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