Multi-Set Testing Strategies Show Good Behavior When Applied to Very Large Sets of Rare Variants.

ABSTRACT: Gene-based tests of association (e.g., variance components and burden tests) are now common practice for analyses attempting to elucidate the contribution of rare genetic variants on common disease. As sequencing datasets continue to grow in size, the number of variants within each set (e.g., gene) being tested is also continuing to grow. Pathway-based methods have been used to allow for the initial aggregation of gene-based statistical evidence and then the subsequent aggregation of evidence across the pathway. This "multi-set" approach (first gene-based test, followed by pathway-based) lacks thorough exploration in regard to evaluating genotype-phenotype associations in the age of large, sequenced datasets. In particular, we wonder whether there are statistical and biological characteris

SUBMITTER: Fore R 

PROVIDER: S-EPMC7680887 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature