2024
Statistical methods for assessing the effects of de novo variants on birth defects
Xie Y, Wu R, Li H, Dong W, Zhou G, Zhao H. Statistical methods for assessing the effects of de novo variants on birth defects. Human Genomics 2024, 18: 25. PMID: 38486307, PMCID: PMC10938830, DOI: 10.1186/s40246-024-00590-z.Peer-Reviewed Original ResearchConceptsDe novo variantsAnalyzed de novo variantsDevelopment of next-generation sequencing technologiesNext-generation sequencing technologiesSequencing technologiesImprove statistical powerGenetic heterogeneitySequenced samplesStatistical powerBirth defectsDiseased individualsLow occurrenceCongenital heart diseaseVariantsGenesDeleterious effectsSequenceGeneral workflowStatistical methods
2023
Statistical assessment of biomarker replicability using MAJAR method
Xie Y, Zhai S, Jiang W, Zhao H, Mehrotra D, Shen J. Statistical assessment of biomarker replicability using MAJAR method. Statistical Methods In Medical Research 2023, 32: 1961-1972. PMID: 37519295, DOI: 10.1177/09622802231188519.Peer-Reviewed Original ResearchConceptsBayesian false discovery rateDifferent data generation processesNovel statistical frameworkExtensive simulation studyExpectation-maximization algorithmStatistical frameworkComputational efficiencyGWAS summary statistics dataSimulation studyData generation processStatistical assessmentSimulation resultsStatistical powerFalse discovery rateResponse predictionSummary statistics dataDiscovery rateSample sizeLimited powerOutliersAlgorithmGeneration processRobustnessPowerSmall sample size