Featured Publications
A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases
Liu W, Deng W, Chen M, Dong Z, Zhu B, Yu Z, Tang D, Sauler M, Lin C, Wain L, Cho M, Kaminski N, Zhao H. A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases. PLOS Genetics 2023, 19: e1010825. PMID: 37523391, PMCID: PMC10414598, DOI: 10.1371/journal.pgen.1010825.Peer-Reviewed Original ResearchConceptsCell typesDisease-associated tissuesWide association studyComplex diseasesCell type proportionsDisease-relevant tissuesReal GWAS dataFunctional genesTranscriptomic dataGWAS dataGenetic dataAssociation studiesNovel statistical frameworkChronic obstructive pulmonary diseaseStatistical frameworkObstructive pulmonary diseaseIdiopathic pulmonary fibrosisBreast cancer riskType proportionsBlood CD8Pulmonary diseasePulmonary fibrosisPredictive biomarkersLung tissueBreast cancer
2020
Statistical Methods in Genome-Wide Association Studies
Sun N, Zhao H. Statistical Methods in Genome-Wide Association Studies. Annual Review Of Biomedical Data Science 2020, 3: 1-24. DOI: 10.1146/annurev-biodatasci-030320-041026.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation studiesTraits of interestGenetic architectureIdentification of variantsGWAS dataStatistical methodologyStatistical challengesGenetic risk prediction modelsGenetic markersStatistical methodsHuman diseasesPhenotype informationGenetic variantsTraitsGenotype informationScientific goalsRecent progressGenesVariantsTens of thousandsHundreds of thousandsPrediction modelPathwayThousands
2019
Improving Genetic Association Analysis through Integration of Functional Annotations of the Human Genome
Lu Q, Zhao H. Improving Genetic Association Analysis through Integration of Functional Annotations of the Human Genome. 2019, 679-30. DOI: 10.1002/9781119487845.ch24.Peer-Reviewed Original ResearchGenome-wide association studiesFunctional annotationHuman genomeAssociation analysisAnnotation dataFunctional annotation dataPost-GWAS analysisSummary association statisticsGenetic association analysisGWAS findingsGWAS dataIntegrative analysisAssociation studiesComplex diseasesAssociation statisticsGenetic associationGenomeComputational methodsAnnotationTraitsDirect applicationStatistical powerMost diseasesInterpretable metricsTens of thousands
2013
Improving genetic risk prediction by leveraging pleiotropy
Li C, Yang C, Gelernter J, Zhao H. Improving genetic risk prediction by leveraging pleiotropy. Human Genetics 2013, 133: 639-650. PMID: 24337655, PMCID: PMC3988249, DOI: 10.1007/s00439-013-1401-5.Peer-Reviewed Original Research