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PMID: 26439716 Published · epublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Interpreting de novo Variation in Human Disease Using denovolyzeR.

Current protocols in human genetics ·Vol. 87 ·2015-10-06 ·Pages 7.25.1-7.25.15

Ware JS, Samocha KE, Homsy J, Daly MJ

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
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
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Ware James S
Department of Genetics, Harvard Medical School, Boston, Massachusetts. | Broad Institute of MIT and Harvard, Cambridge, Massachusetts. | Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts. | NIHR Cardiovascular Biomedical Research Unit at Royal Brompton Hospital and Imperial College London, London, United Kingdom.
Samocha Kaitlin E
Department of Genetics, Harvard Medical School, Boston, Massachusetts. | Broad Institute of MIT and Harvard, Cambridge, Massachusetts. | Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Homsy Jason
Department of Genetics, Harvard Medical School, Boston, Massachusetts. | Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.
Daly Mark J
Department of Genetics, Harvard Medical School, Boston, Massachusetts. | Broad Institute of MIT and Harvard, Cambridge, Massachusetts. | Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
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Article Info
Journal
Current protocols in human genetics
Abbr.
Curr Protoc Hum Genet
ISSN
1934-8258
DOI
10.1002/0471142905.hg0725s87
Published
2015-10-06
Epub
2015-00-06
Pages
7.25.1-7.25.15
Language
English
Region
United States
NLM ID
101287858
PMCID
PMC4606471
Subset
IM
Grants
NIMH NIH HHS · R01 MH089208 · United States
NIMH NIH HHS · U01 MH100229 · United States
NIMH NIH HHS · 1U01MH100229-01 · United States
Medical Research Council · MC_UP_1102/20 · United Kingdom
NIMH NIH HHS · R01MH089208 · United States
External Links
PubMed source DOI: 10.1002/0471142905.hg0725s87 PMC Full Text
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