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Article

Interpreting de novo Variation in Human Disease Using denovolyzeR.

Current protocols in human genetics - 6 Oct 2015

Ware James S, Samocha Kaitlin E, Homsy Jason, Daly Mark J

Abstract excerpt

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....

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Identifiers

PMID: 26439716
DOI: 10.1002/0471142905.hg0725s87
PMCID: PMC4606471

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