Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Barbeira A, Dickinson S, Bonazzola R, Zheng J, Wheeler H, Torres J, Torstenson E, Shah K, Garcia T, Edwards T, Stahl E, Huckins L, GTEx Consortium, Nicolae D, Cox N, Im H. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nature Communications 2018, 9: 1825. PMID: 29739930, PMCID: PMC5940825, DOI: 10.1038/s41467-018-03621-1.Peer-Reviewed Original ResearchConceptsGene expression variationExpression variationMonogenic disease genesGWAS summary statisticsSpectrum of milder phenotypesGTEx tissuesS-PrediXcanDisease genesTrait etiologyPhenotypic consequencesGenetic variantsHuman phenotypesRegulatory mechanismsMilder phenotypeSummary statisticsSignificant associationPhenotypeGenesTraitsMeta-analysis studySummary dataReference setsPrediXcanIndependent cohortGWAS