Fine mapped eQTL and sQTL summary statistics from the INTERVAL RNA-seq study (part 1)

This repository contains fine mapped eQTL and sQTL summary statistics from the INTERVAL RNA-seq study (Tokolyi et al, 2025). Datasets QTD001000-QTD001002 are based on the whole cohort of 4,729 samples with available RNA-seq and array genotyping data. The genotypes were imputed the 1000 Genomes 30x on GRCh38 reference panel using the eQTL-Catalogue/genimpute workflow. Datasets QTD001003-QTD001005 are based on a subset of 2,892 samples with available WGS data (from the Vanderstichele et al, 2024 study).

RNA-seq reads were aligned with HISAT2. Gene expression was quantified with featureCounts and RNA-seq was quantified with LeafCutter and MAJIQ v3. All quantification methods were implemented as part of the eQTL-Catalogue/rnaseq workflow. See the INTERVAL_RNA_dataset_metadata.tsv file to match dataset ids to quantification methods.

The SuSiE log Bayes factors are available from part 2 of the repository.