Gene-based burden scores identify rare variant associations for 28 blood biomarkers.

ABSTRACT:

Background

A relevant part of the genetic architecture of complex traits is still unknown; despite the discovery of many disease-associated common variants. Polygenic risk score (PRS) models are based on the evaluation of the additive effects attributable to common variants and have been successfully implemented to assess the genetic susceptibility for many phenotypes. In contrast, burden tests are often used to identify an enrichment of rare deleterious variants in specific genes. Both kinds of genetic contributions are typically analyzed independently. Many studies suggest that complex phenotypes are influenced by both low effect common variants and high effect rare deleterious variants. The aim of this paper is to integrate the effect of both common and rare functional variants

SUBMITTER: Aldisi R 

PROVIDER: S-EPMC10476296 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature