A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic epistasis.

ABSTRACT: The contribution of epistasis (interactions among genes or genetic variants) to human complex trait variation remains poorly understood. Methods that aim to explicitly identify pairs of genetic variants, usually single nucleotide polymorphisms (SNPs), associated with a trait suffer from low power due to the large number of hypotheses tested while also having to deal with the computational problem of searching over a potentially large number of candidate pairs. An alternate approach involves testing whether a single SNP modulates variation in a trait against a polygenic background. While overcoming the limitation of low power, such tests of polygenic or marginal epistasis (ME) are infeasible on Biobank-scale data where hundreds of thousands of individuals are genotyped over millions of SNPs

SUBMITTER: Fu B 

PROVIDER: S-EPMC10515811 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature