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Curr Protoc Hum Genet. 2015 Oct 6;87:7.25.1-15. doi: 10.1002/0471142905.hg0725s87.

Interpreting de novo Variation in Human Disease Using denovolyzeR.

Ware JS1,2,3,4, Samocha KE1,2,3, Homsy J1,5, Daly MJ1,2,3.

Author information

1
Department of Genetics, Harvard Medical School, Boston, Massachusetts.
2
Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
3
Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
4
NIHR Cardiovascular Biomedical Research Unit at Royal Brompton Hospital and Imperial College London, London, United Kingdom.
5
Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.

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

PMID:
26439716
PMCID:
PMC4606471
DOI:
10.1002/0471142905.hg0725s87
[Indexed for MEDLINE]
Free PMC Article

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