Single-Cell eQTL and isoQTL Profiling of Normal Lung Tissues from Never-Smoking Korean Women

This study was performed to identify cell-type-specific genetic regulation of gene expression in human lung tissues. All 129 participants are Korean female never-smokers who underwent lobectomey with a curative aim for lung adenocarcinoma at Yonsei University Health System, Severance Hospital, in Seoul, Korea. We performed single-cell short-read and long-read RNA sequencing of barcode-matched cDNAs from tumor/lesion-distant normal lung tissues. Germline genotypes were profiled using matched blood DNA on Illumina Infinium Global Screening Array (v2) and imputed using 1000 Genomes (v5) EAS populations as a reference. We identified cell-type-specific eQTLs and full-length isoform level isoQTLs using pseudobulk linear model or negative binomial model from each lung cell type. Individual-level imputed germline genotypes will be available through dbGaP.

• Type: Case-Control
• Archive: The database of Genotypes and Phenotypes (dbGaP)