Interpreting de novo Variation in Human Disease Using denovolyzeR

Curr Protoc Hum Genet. 2015 Oct 6:87:7.25.1-7.25.15. doi: 10.1002/0471142905.hg0725s87.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods*
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Genome-Wide Association Study / methods
  • Humans
  • Models, Genetic
  • Models, Statistical
  • Mutation
  • Polymorphism, Single Nucleotide
  • Software*