2018
Histopathological Image QTL Discovery of Immune Infiltration Variants
Barry J, Fagny M, Paulson J, Aerts H, Platig J, Quackenbush J. Histopathological Image QTL Discovery of Immune Infiltration Variants. IScience 2018, 5: 80-89. PMID: 30240647, PMCID: PMC6123851, DOI: 10.1016/j.isci.2018.07.001.Peer-Reviewed Original ResearchGenotype-Tissue ExpressionQuantitative traitsQuantitative trait lociGenotype-phenotype associationsVariant discoveryThyroid pathology imagesGenomic dataGenomic networksAssociation studiesTrait lociQTL dataQuantitative imaging biomarkersTissue length scalesMolecular readoutsImaging biomarkersClinical metadataGenomeImmune cell infiltrationQuantitative imaging featuresTXNDC5Hypothyroid datasetTraitsCell infiltrationVariantsMedical records
2017
Exploring regulation in tissues with eQTL networks
Fagny M, Paulson J, Kuijjer M, Sonawane A, Chen C, Lopes-Ramos C, Glass K, Quackenbush J, Platig J. Exploring regulation in tissues with eQTL networks. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7841-e7850. PMID: 28851834, PMCID: PMC5604022, DOI: 10.1073/pnas.1707375114.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociEQTL networksGenetic variantsCoherent biological processesImpact of genetic variantsActive chromatin regionsQuantitative trait lociTissue-specific processesGene expression levelsChromatin regionsGroup genesTrait lociComplex phenotypesRegulatory potentialGenotype to phenotype mappingPhenotype mappingBiological processesRegulatory functionsExpression levelsGenesRegulatory impactVariantsLociBipartite networksPhenotype