Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes.

ABSTRACT: Gene-based tests are valuable techniques for identifying genetic factors in complex traits. Here, we propose a gene-based testing framework that incorporates data on long-range chromatin interactions, several recent technical advances for region-based tests, and leverages the knockoff framework for synthetic genotype generation for improved gene discovery. Through simulations and applications to genome-wide association studies (GWAS) and whole-genome sequencing data for multiple diseases and traits, we show that the proposed test increases the power over state-of-the-art gene-based tests in the literature, identifies genes that replicate in larger studies, and can provide a more narrow focus on the possible causal genes at a locus by reducing the confounding effect of linkage disequilibriu

SUBMITTER: Ma S 

PROVIDER: S-EPMC8617518 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature