Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.

ABSTRACT: Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates the association of rare variants in coding or regulatory regions with complex diseases in large cohorts at genome-wide scale. However, rare variant association studies (RVAS) still lack power when cohorts are small to medium-sized and if genetic variation explains a small fraction of phenotypic variance. Here we present a novel Bayesian rare variant Association Test using Integrated Nested Laplace Approximation (BATI). Unlike existing RVAS tests, BATI allows integration of individual or variant-specific features as covariates, while efficiently performing inference based

SUBMITTER: Susak H 

PROVIDER: S-EPMC7928502 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature