Figure 1.
Overview of the BayesRVAT framework. (A) In rare variant association tests (RVATs), rare variants X and their annotations A are aggregated into a gene burden score, which is tested for association with the phenotype y. BayesRVAT explicitly introduces aggregation function gφ(X, A) and a prior over aggregation parameters ϕ. (B) BayesRVAT enables scalable gene burden testing accounting for multiple annotations. (C) It also provides annotation importance scores (AIS) for each analyzed gene–trait pair.
