Interpreting de novo Variation in Human Disease Using denovolyzeR.

Interpreting de novo Variation in Human Disease Using denovolyzeR.
Curr Protoc Hum Genet. 2015;87:7.25.1-7.25.15
Authors: Ware JS, Samocha KE, Homsy J, Daly MJ
Abstract
Spontaneously arising (de novo) genetic variants are important in human disease, yet every individual carries many such variants, with a median of 1 de novo variant affecting the protein-coding portion of the genome. A recently described mutational model provides a powerful framework for the robust statistical evaluation of such coding variants, enabling the interpretation of de novo variation in human disease. Here we describe a new open-source software package, denovolyzeR, that implements this model and provides tools for the analysis of de novo coding sequence variants. © 2015 by John Wiley & Sons, Inc.
PMID: 26439716 [PubMed - in process]

Source: Current Protocols in Human Genetics - October 8, 2015 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research