Incorporating Functional Information in Tests of Excess De Novo Mutational Load

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.

Source: The American Journal of Human Genetics - July 30, 2015 Category: Genetics & Stem Cells Authors: Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B. Goldstein, Andrew S. Allen Tags: Article Source Type: research