Journal article

Incorporating Functional Information in Tests of Excess De Novo Mutational Load

Yu Jiang, Yujun Han, Slave Petrovski, Kouros Owzar, David B Goldstein, Andrew S Allen

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2015

Abstract

A number of recent studies have investigated the role of de novo mutations in various neurodevelopmental and neuropsychiatric disorders. These studies attempt to implicate causal genes by looking for an excess load of de novo mutations within those genes. Current statistical methods for assessing this excess are based on the implicit assumption that all qualifying mutations in a gene contribute equally to disease. However, it is well established that different mutations can have radically different effects on the ultimate protein product and, as a result, on disease risk. Here, we propose a method, fitDNM, that incorporates functional information in a test of excess de novo mutational load. ..

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University of Melbourne Researchers