Human variation in population-wide gene expression data predicts gene perturbation phenotype.

ABSTRACT: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function "in population" experiment. We describe here an approach, huva (human variation), taking advantage of population-scale multi-layered data to infer gene function and relationships between phenotypes and expression. Within a reference dataset, huva derives two experimental groups with LOW or HIGH expression of the GOI, enabling the subsequent comparison of their transcriptional profile and functional parameters. We demonstrate that this approach robustly identifies the phenotypic relevance of a GOI allowing the stratification of genes accordi

SUBMITTER: Bonaguro L 

PROVIDER: S-EPMC9614568 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature