denovolyzeR (version 0.2.0)
Statistical Analyses of De Novo Genetic Variants
Description
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.