Article
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.
Nature genetics - 1 Mar 2013
Gratten Jacob, Visscher Peter M, Mowry Bryan J, Wray Naomi R
Abstract excerpt
Pedigree, linkage and association studies are consistent with heritable variation for complex disease due to the segregation of genetic factors in families and in the population. In contrast, de novo mutations make only minor contributions to heritability estimates for complex traits. Nonetheless, some de novo variants are known to be important in disease etiology. The identification of risk-conferring de novo...
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