Interpreting de novo Variation in Human Disease Using denovolyzeR.

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.

SUBMITTER: Ware JS 

PROVIDER: S-EPMC4606471 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature