eQTLGen Consortium
The eQTLGen Consortium conducts large-scale meta-analyses of expression quantitative trait loci (eQTLs) in blood samples to investigate the genetic architecture of gene expression and understand the genetic underpinnings of complex traits. Phase I analyzed 31,684 blood and PBMC samples from 37 cohorts, identifying thousands of cis-eQTLs, trans-eQTLs, and expression quantitative trait score (eQTS) associations. The consortium also includes a single-cell eQTLGen project. Phase II is expanding to genome-wide eQTL meta-analysis across even more blood-based cohorts. The resulting summary statistics provide a valuable resource for interpreting genome-wide association studies (GWAS), developing novel methods, and understanding molecular mechanisms of complex traits.
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{"activity_status": "active", "category": "DataSource", "description": "The eQTLGen Consortium conducts large-scale meta-analyses of expression quantitative trait loci (eQTLs) in blood samples to investigate the genetic architecture of gene expression and understand the genetic underpinnings of complex traits. Phase I analyzed 31,684 blood and PBMC samples from 37 cohorts, identifying thousands of cis-eQTLs, trans-eQTLs, and expression quantitative trait score (eQTS) associations. The consortium also includes a single-cell eQTLGen project. Phase II is expanding to genome-wide eQTL meta-analysis across even more blood-based cohorts. 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"eqtlgen.allele_frequencies", "name": "Allele Frequencies", "product_file_size": 240045342, "product_url": "https://molgenis26.gcc.rug.nl/downloads/eqtlgen/cis-eqtl/2018-07-18_SNP_AF_for_AlleleB_combined_allele_counts_and_MAF_pos_added.txt.gz"}, {"category": "GraphicalInterface", "description": "Web interface for browsing significant cis-eQTL, trans-eQTL, and eQTS results from Phase I, with SMR-prioritised gene lists for various traits.", "format": "http", "id": "eqtlgen.phase1_browser", "name": "eQTLGen Phase I Browser", "product_url": "https://www.eqtlgen.org/phase1.html"}, {"category": "DocumentationProduct", "description": "Analysis cookbook and documentation for eQTLGen Phase II genome-wide eQTL meta-analysis in blood.", "format": "http", "id": "eqtlgen.phase2_cookbook", "name": "eQTLGen Phase II Cookbook", "product_url": "https://eqtlgen.github.io/eqtlgen-web-site/eQTLGen-p2-cookbook.html"}, {"category": "GraphicalInterface", "description": "Website for the single-cell eQTLGen project, providing resources and publications for single-cell eQTL analysis.", "format": "http", "id": "eqtlgen.sc_website", "name": "Single-cell eQTLGen Website", "product_url": "https://www.eqtlgen.org/sc"}, {"category": "GraphProduct", "description": "Integrated graph knowledge base combining Mendelian randomization causal estimates, pathway, QTL, drug, literature-derived, and ontology-backed relationships (Neo4j backend)", "format": "neo4j", "id": "epigraphdb.graph", "name": "EpiGraphDB Graph Database", "original_source": ["epigraphdb", "kg-monarch", "vectology", "ukbiobank", "prsatlas", "eqtlgen", "mondo", "gtex", "ensembl", "cpic", "opentargets", "efo", "semmeddb", "intact", "string", "reactome", "mrbase"], "product_url": "https://docs.epigraphdb.org/graph-database/", "secondary_source": ["epigraphdb"]}], "publications": [{"authors": ["V\u00f5sa U", "Claringbould A", "Westra HJ", "Bonder MJ", "Deelen P", "Zeng B", "Franke L"], "id": "https://doi.org/10.1038/s41588-021-00913-z", "journal": "Nature Genetics", "preferred": true, "title": "Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression", "year": "2021"}], "repository": "https://github.com/eqtlgen"}