RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.

ABSTRACT: A large proportion of genetic variations involved in complex diseases are rare and located within noncoding regions, making the interpretation of underlying biological mechanisms a daunting task. Although technical and methodological progress has been made to annotate the genome, current disease-rare-variant association tests incorporating such annotations suffer from two major limitations. First, they are generally restricted to case-control designs of unrelated individuals, which often require tens or hundreds of thousands of individuals to achieve sufficient power. Second, they were not evaluated with region-based annotations needed to interpret the causal regulatory mechanisms. In this work, we propose RetroFun-RVS, a new retrospective family-based score test, incorporating functional

SUBMITTER: Mangnier L 

PROVIDER: S-EPMC11775437 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature