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. 2015 Oct 6:87:7.25.1-7.25.15.
doi: 10.1002/0471142905.hg0725s87.

Interpreting de novo Variation in Human Disease Using denovolyzeR

James S Ware  1   2   3   4 , Kaitlin E Samocha  1   2   3 , Jason Homsy  1   5 , Mark J Daly  1   2   3
Affiliations

Interpreting de novo Variation in Human Disease Using denovolyzeR

James S Ware et al. Curr Protoc Hum Genet. .

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.

Keywords: de novo variant; exome sequencing.

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