Statistical Analyses of De Novo Genetic Variants
Evaluates burden of de novo variation against expectation
Determine significance of genes with multiple de novos
A package for the analysis of de novo sequencing variants
FMRP genes
Checks input for errors
Permutes x variants across a genelist, and counts genes with multiple ...
Displays underlying de novo probability tables
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.