Open AccessInterpreting de novo Variation in Human Disease Using denovolyzeR
Author(s) -
Ware James S.,
Samocha Kaitlin E.,
Homsy Jason,
Daly Mark J.
Publication year - 2015
Publication title -
current protocols in human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.282
H-Index - 30
eISSN - 1934-8258
pISSN - 1934-8266
DOI - 10.1002/0471142905.hg0725s87
Subject(s) - computational biology , human genome , biology , genome , genetics , coding region , computer science , gene
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.