gala2_sage_eQTL
Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture
This repository contains scripts related to the publication: Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture. Mak et al. (2023) Nat Genet 55(6):952-963
Summary statistics for cis- and trans-eQTLs, as well as TWAS models developed using data from GALA II and SAGE participants, can be found in Zenodo (DOI:10.5281/zenodo.6622368)
Project overview
This study included TOPMed WGS and whole transcriptome data generated from whole-blood samples of SAGE AA and GALA II Latino individuals (n = 2,733). We compared elements of the genetic architecture gene expression, such as cis-heritability and genetic variance, across participant groups defined based on self-identified race/ethnicity and genetic ancestry. We performed eQTL mapping and identified eQTLs that were specific to AFR or IAM ancestry. Finally, we developed genetic prediction models of whole-blood transcriptomes and performed comparative TWASs using GWAS summary statistics generated from the PAGE study and the UKB. Figure created with BioRender.com.
