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
2016
Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies
Lu Q, Powles RL, Wang Q, He BJ, Zhao H. Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies. PLOS Genetics 2016, 12: e1005947. PMID: 27058395, PMCID: PMC4825932, DOI: 10.1371/journal.pgen.1005947.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGWAS signalsComplex traitsFunctional annotationAssociation studiesHuman complex traitsFunctional regionsNon-coding regionsGWAS p-valuesWide association studyNovel biological insightsRelevant tissue typesEpigenetic annotationsGenomic functionsRegulatory machineryTransposable elementsHuman genomeGenoSkylineRisk lociBiological insightsIntegrative analysisGenetic studiesRegulatory miRNAPrioritization performanceSpecific annotations