denovolyzeR: Statistical Analyses of De Novo Genetic Variants

An integrated toolset for the analysis of de novo (sporadic) genetic sequence variants. denovolyzeR implements a mutational model that estimates the probability of a de novo genetic variant arising in each human gene, from which one can infer the expected number of de novo variants in a given population size. Observed variant frequencies can then be compared against expectation in a Poisson framework. denovolyzeR provides a suite of functions to implement these analyses for the interpretation of de novo variation in human disease.

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AuthorJames Ware [aut, cre], Jason Homsy [ctb], Kaitlin Samocha [ctb]
Date of publication2016-08-01 14:55:41
MaintainerJames Ware <>

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