Sources of gene expression variation in a globally diverse human cohort.

ABSTRACT: Genetic variation that influences gene expression and splicing is a key source of phenotypic diversity^1-5. Although invaluable, studies investigating these links in humans have been strongly biased towards participants of European ancestries, which constrains generalizability and hinders evolutionary research. Here to address these limitations, we developed MAGE, an open-access RNA sequencing dataset of lymphoblastoid cell lines from 731 individuals from the 1000 Genomes Project⁶, spread across 5 continental groups and 26 populations. Most variation in gene expression (92%) and splicing (95%) was distributed within versus between populations, which mirrored the variation in DNA sequence. We mapped associations between genetic variants and expression and splicing of ne

SUBMITTER: Taylor DJ 

PROVIDER: S-EPMC11291278 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature