eQTLGen

Identifier

eqtlgen

License

CC BY 4.0

Citation

Võsa, U., Claringbould, A., Westra, HJ. et al. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nat Genet 2021;53:1300-1310. doi:10.1038/s41588-021-00913-z

Overview

Large-scale cis- and trans-eQTL meta-analysis of blood gene expression.

Domain: genetics.

Source: https://www.eqtlgen.org/.

Blood-cell eQTL meta-analysis. variants is the harmonised variant catalogue; eqtls is the cis- and trans-association table; genes is the gene annotation table.

To go from a gene symbol to its eQTLs, look up the Ensembl ID in genes (by symbol) then filter eqtls.gene_id.

Variants and eQTLs are harmonised to dbSNP GRCh38 alleles — filter on in_dbsnp = True and is_palindromic = False to drop strand-ambiguous rows before cross-cohort analysis.

Genome-wide significance threshold for neg_log_10_p_value is ~7.3 (-log10(5e-8)).

Tables

• eqtlgen.eqtls — cis- and trans-eQTL meta-analysis association results across blood gene expression cohorts.
• eqtlgen.genes — Gene annotation table for eQTLGen probes.
• eqtlgen.variants — Harmonised variant catalogue for the eQTLGen meta-analysis.