UNIT
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. © 2015 by John Wiley & Sons, Inc.
Citing Literature
Number of times cited according to CrossRef: 22
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