2025
Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies
Zhang X, Wang L, Zhao J, Zhao H. Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies. American Journal Of Human Genetics 2025 PMID: 40902598, PMCID: PMC12412983, DOI: 10.1016/j.ajhg.2025.08.007.Peer-Reviewed Original ResearchTranscriptome-wide association studyExpression quantitative trait lociGenome-wide association studiesGene-trait pairsFalse discovery rateAssociation studiesTranscriptome-wide association study approachTranscriptome-wide association study methodExpression quantitative trait loci dataGenes associated with complex traitsGenetic variantsGenome-wide association study summary statisticsSusceptibility genesGene-trait associationsSusceptibility gene identificationQuantitative trait lociParametric bootstrap samplingGene expression levelsGenomic regionsGenetic elementsComplex traitsGene identificationTrait lociFalse discovery rate levelKnockoff procedure
2020
Leveraging functional annotation to identify genes associated with complex diseases
Liu W, Li M, Zhang W, Zhou G, Wu X, Wang J, Lu Q, Zhao H. Leveraging functional annotation to identify genes associated with complex diseases. PLOS Computational Biology 2020, 16: e1008315. PMID: 33137096, PMCID: PMC7660930, DOI: 10.1371/journal.pcbi.1008315.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociComplex traitsNovel lociIdentification of eQTLGene expressionTranscriptome-wide association study methodLinkage disequilibriumQuantitative trait lociAssociation study methodsCombined Annotation Dependent Depletion (CADD) scoresAnnotation-dependent depletion scoreExpression levelsDisease-associated genesEpigenetic annotationsEpigenetic informationFunctional annotationTrait lociGenetic variationGenesPrevious GWASLociGenetic effectsTraitsComplex diseasesGWAS
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