denovolyzeR (0.2.0)

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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.

Maintainer: James Ware
Author(s): James Ware [aut, cre], Jason Homsy [ctb], Kaitlin Samocha [ctb]

License: GPL-3

Uses: dplyr, reshape2, knitr, rmarkdown

Released about 1 year ago.

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