A scalable framework for identifying allelic series from summary statistics.

ABSTRACT: Genes where a dose-response relationship exists between functionality and phenotypic impact are appealing therapeutic targets, as the effects of pharmacological modulation can be predicted from natural genetic variation. We refer to such genes as harboring allelic series and have introduced the rare coding-variant allelic series test (COAST) for their identification. The original COAST required access to individual-level data. However, these data are often unavailable due to privacy or logistical constraints. Meanwhile, single-variant summary statistics of the type produced by genome-wide association studies are plentiful. Here, we introduce COAST-SS, an extension of COAST that accepts standard summary statistics as input. As a running example, we consider identifying allelic series for ci

SUBMITTER: McCaw ZR 

PROVIDER: S-EPMC12808971 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature