2024
Leveraging Functional Annotations Improves Cross-Population Genetic Risk Prediction
Ye Y, Xu L, Zhao H. Leveraging Functional Annotations Improves Cross-Population Genetic Risk Prediction. ICSA Book Series In Statistics 2024, 453-471. DOI: 10.1007/978-3-031-50690-1_18.Peer-Reviewed Original ResearchPolygenic risk scoresFunctional annotationGenetic risk predictionStandard PRSPost-GWAS analysisPolygenic risk score modelCross-population predictionNon-European populationsGenetic resultsGenetic studiesRisk predictionCross populationsAnnoPredPRS methodsUK BiobankAnnotationRisk scoreTraits/diseasesLDpredPopulationP+TPoor transferBiobankBayesian frameworkUsing clinical and genetic risk factors for risk prediction of 8 cancers in the UK Biobank
Hu J, Ye Y, Zhou G, Zhao H. Using clinical and genetic risk factors for risk prediction of 8 cancers in the UK Biobank. JNCI Cancer Spectrum 2024, 8: pkae008. PMID: 38366150, PMCID: PMC10919929, DOI: 10.1093/jncics/pkae008.Peer-Reviewed Original ResearchPolygenic risk scoresUK BiobankCancer riskClinical risk factorsRisk of breast cancerRisk factorsPolygenic risk score modelHigh risk of developing cancerRisk of developing cancerLate-onset patientsRisk predictionClinical variablesHigh-risk individualsCox proportional hazards modelsProportional hazards modelGenetic risk factorsBaseline traitsClinical risk modelRisk scoreEarly-onset patientsHazards modelLate-onset groupEarly-onset groupBreast cancerHigh risk
2023
Early 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 ResearchConceptsBreast 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