2017
Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer’s disease
Lu Q, Powles RL, Abdallah S, Ou D, Wang Q, Hu Y, Lu Y, Liu W, Li B, Mukherjee S, Crane PK, Zhao H. Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer’s disease. PLOS Genetics 2017, 13: e1006933. PMID: 28742084, PMCID: PMC5546707, DOI: 10.1371/journal.pgen.1006933.Peer-Reviewed Original ResearchConceptsTissue typesNon-coding elementsNon-coding genomeComplex human diseasesLate-onset Alzheimer's diseaseIndividual cell typesRelevant tissue typesGWAS traitsTranscriptomic annotationGenome annotationFunctional annotationDNA elementsHeritability enrichmentHuman genomeLarge international consortiaVariety of cellsGenomeHuman diseasesAnnotation dataCell typesGenetic variantsOrgan system categoriesComplex diseasesSimilar localizationAnnotationLeveraging functional annotations in genetic risk prediction for human complex diseases
Hu Y, Lu Q, Powles R, Yao X, Yang C, Fang F, Xu X, Zhao H. Leveraging functional annotations in genetic risk prediction for human complex diseases. PLOS Computational Biology 2017, 13: e1005589. PMID: 28594818, PMCID: PMC5481142, DOI: 10.1371/journal.pcbi.1005589.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingData Interpretation, StatisticalData MiningDatabases, GeneticEpigenomicsGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenome, HumanHumansLinkage DisequilibriumPolymorphism, Single NucleotideProportional Hazards ModelsQuantitative Trait LociRisk AssessmentConceptsGenome-wide association studiesFunctional annotationGenetic risk predictionDisease-associated genetic variantsLinkage disequilibriumIdentification of thousandsWide association studyHuman complex diseasesComplex diseasesGWAS summary statisticsHuman genetics researchAssociation studiesAnnoPredGenotype dataGenetic researchGenetic variantsRelevant variantsAnnotationDisequilibriumMost diseasesDiverse typesSummary statisticsVariantsBayesian frameworkPrecision medicine
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 ResearchMeSH KeywordsCoronary Artery DiseaseGenome, HumanGenome-Wide Association StudyHumansPolymorphism, Single NucleotideConceptsGenome-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
2015
A Statistical Framework to Predict Functional Non-Coding Regions in the Human Genome Through Integrated Analysis of Annotation Data
Lu Q, Hu Y, Sun J, Cheng Y, Cheung KH, Zhao H. A Statistical Framework to Predict Functional Non-Coding Regions in the Human Genome Through Integrated Analysis of Annotation Data. Scientific Reports 2015, 5: 10576. PMID: 26015273, PMCID: PMC4444969, DOI: 10.1038/srep10576.Peer-Reviewed Original ResearchConceptsHuman genomeFunctional regionsStatistical frameworkAnnotation dataFunctional annotation dataWhole-genome annotationNon-coding regionsGenomic conservationHigh-throughput experimentsENCODE projectExperimental annotationsGenomeUnsupervised statistical learningFunctional potentialHuman geneticsStatistical learningComputational predictionsIntegrated analysisAnnotationAnnotation methodDiverse typesPowerful toolGeneticsMajor goalWeb server
1997
Strategies to Identify Genes for Complex Diseases
Zhang H, Zhao H, Merikangas K. Strategies to Identify Genes for Complex Diseases. Annals Of Medicine 1997, 29: 493-498. PMID: 9562515, DOI: 10.3109/07853899709007473.Peer-Reviewed Original ResearchConceptsComplex diseasesNumerous human diseasesDisease-susceptible genesComplex human disordersHuman genomeGenetic basisHuman disordersHuman diseasesMolecular biologyGenesGenetic epidemiological studiesGenetic factorsComplex patternsDisease pathophysiologyGenomeBiologyTraitsInheritanceMultiple sclerosisBreast cancerEpidemiological studies