2024
SANTO: a coarse-to-fine alignment and stitching method for spatial omics
Li H, Lin Y, He W, Han W, Xu X, Xu C, Gao E, Zhao H, Gao X. SANTO: a coarse-to-fine alignment and stitching method for spatial omics. Nature Communications 2024, 15: 6048. PMID: 39025895, PMCID: PMC11258319, DOI: 10.1038/s41467-024-50308-x.Peer-Reviewed Original Research
2023
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 cancerEarly breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
Tao L, Ye Y, Zhao H. Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning. Journal Of Medical Genetics 2023, 60: 960-964. PMID: 37055164, DOI: 10.1136/jmg-2022-108582.Peer-Reviewed Original ResearchMeSH KeywordsArtificial IntelligenceBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMachine LearningRisk FactorsConceptsBreast cancerPolygenic risk scoresRisk scoreBC risk assessmentClinical breast examNon-genetic risk factorsHigh-risk individualsFemale participantsBreast examCancer deathCommon cancerBC screeningRisk factorsBC diagnosisDisease risk predictionDiagnostic stepsPopulation screeningGenetic riskRisk predictionUK BiobankCancerDiagnosisDiagnostic pipelineWomenDetection test
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