BeviMed-package: Bayesian Evaluation of Variant Involvement in Mendelian...

Description Details Author(s) References See Also

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.

See Also

bevimed


BeviMed documentation built on Feb. 1, 2021, 1:06 a.m.