A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.

Abstract excerpt

We present a rapid and powerful inference procedure for identifying loci associated with rare hereditary disorders using Bayesian model comparison. Under a baseline model, disease risk is fixed across all individuals in a study. Under an association model, disease risk depends on a latent bipartition of rare variants into pathogenic and non-pathogenic variants, the number of pathogenic alleles that each...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathies
• Share to Immunologic Deficiency Syndromes
• Share to Osteochondrodysplasias