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.
denovolyzeByGenes() returned incorrect output if user overrode default variant classes analysed (using includeClasses argument; column labels did not match data content)2015-04-01: v0.0.0.9003
new functionality includes analysis of sub-types of missense variation
argument names and output formats are about to change: this development release serves to preserce a working version of the package using first draft argument names
2014-11-11: v0.0.0.9000
core statistical functionality is complete and ready for beta-testing
main limitation is a lack of error-catching
there may also be very minor modifications to underlying probability tables