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 procedureJointPRS: A data-adaptive framework for multi-population genetic risk prediction incorporating genetic correlation
Xu L, Zhou G, Jiang W, Zhang H, Dong Y, Guan L, Zhao H. JointPRS: A data-adaptive framework for multi-population genetic risk prediction incorporating genetic correlation. Nature Communications 2025, 16: 3841. PMID: 40268942, PMCID: PMC12019179, DOI: 10.1038/s41467-025-59243-x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenetic risk predictionUK BiobankGenome-wide association study summary statisticsAdmixed American populationsRisk predictionGenetic correlationsNon-European populationsContinental populationsAssociation studiesReal-data applicationBinary traitsTrait predictionSummary statisticsMultiple populationsAmerican populationData-adaptive approachSample sizeData applicationsAOUPopulationBiobankData scenarioTraits
2024
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics
Hu X, Cai M, Xiao J, Wan X, Wang Z, Zhao H, Yang C. Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics. American Journal Of Human Genetics 2024, 111: 1717-1735. PMID: 39059387, PMCID: PMC11339627, DOI: 10.1016/j.ajhg.2024.06.016.Peer-Reviewed Original ResearchConceptsMendelian randomizationMR methodsGenome-wide association study summary statisticsMendelian randomization methodsCausal inferenceInvalid instrumental variablesType I error controlInstrumental variablesCausal effect estimationIV assumptionsEffect estimatesSummary statisticsTwo-sampleGenetic variantsTrait pairsConfoundingGenetic datasetsGenetic dataConfounding scenariosRandomization methodInferencePractical guidanceSimulated datasetsGuidelinesStudy
2022
SDPRX: A statistical method for cross-population prediction of complex traits
Zhou G, Chen T, Zhao H. SDPRX: A statistical method for cross-population prediction of complex traits. American Journal Of Human Genetics 2022, 110: 13-22. PMID: 36460009, PMCID: PMC9892700, DOI: 10.1016/j.ajhg.2022.11.007.Peer-Reviewed Original ResearchConceptsStatistical methodsJoint distributionWide association study (GWAS) summary statisticsNon-European populationsReal traitsSummary statisticsCross-population predictionPrediction accuracyGenome-wide association study summary statisticsLinkage disequilibrium differencesPrediction performancePolygenic risk scoresComplex traitsStatisticsSimulationsApplicationsTraits
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