| BeviMed-package {BeviMed} | R Documentation |
Bayesian Evaluation of Variant Involvement in Mendelian Disease
Description
A fast integrative genetic association test for rare diseases.
Details
BeviMed estimates a probability of association between a case/control label and allele counts at rare variant sites in a genomic locus and also, given that there is an association, the probabilities that each variant is involved in the disease. It does so by estimating the evidence for a model where the case/control label is independent of the allele configurations, and a model in which the probability of the case/control label depends on the corresponding allele configuration and a latent partition of variants into pathogenic and non-pathogenic groups.
Author(s)
Daniel Greene.
Maintainer: Daniel Greene <dg333@cam.ac.uk>
References
Greene et al., A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases, The American Journal of Human Genetics (2017), http://dx.doi.org/10.1016/j.ajhg.2017.05.015.