2023
Saddlepoint approximations to score test statistics in logistic regression for analyzing genome‐wide association studies
Johnsen P, Bakke Ø, Bjørnland T, DeWan A, Langaas M. Saddlepoint approximations to score test statistics in logistic regression for analyzing genome‐wide association studies. Statistics In Medicine 2023, 42: 2746-2759. PMID: 37094813, DOI: 10.1002/sim.9746.Peer-Reviewed Original Research
2022
Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks
Dey R, Zhou W, Kiiskinen T, Havulinna A, Elliott A, Karjalainen J, Kurki M, Qin A, Lee S, Palotie A, Neale B, Daly M, Lin X. Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks. Nature Communications 2022, 13: 5437. PMID: 36114182, PMCID: PMC9481565, DOI: 10.1038/s41467-022-32885-x.Peer-Reviewed Original ResearchConceptsAssociation analysisGenetic variants associated with ageLow frequency variantsState-of-the-art optimization strategiesNatural history of complex diseasesPhenome-wide associationFrequency variantsPopulation structureGenetic dataWhite British ancestryElectronic health recordsUK Biobank participantsCensoring ratesSaddlepoint approximationComplex diseasesSimulation studyPhenotypeBiobank participantsHealth recordsUK BiobankBritish ancestryOptimal strategyAncestrySaddlepointRelatednessIncorporating family disease history and controlling case–control imbalance for population-based genetic association studies
Zhuang Y, Wolford B, Nam K, Bi W, Zhou W, Willer C, Mukherjee B, Lee S. Incorporating family disease history and controlling case–control imbalance for population-based genetic association studies. Bioinformatics 2022, 38: 4337-4343. PMID: 35876838, PMCID: PMC9477535, DOI: 10.1093/bioinformatics/btac459.Peer-Reviewed Original ResearchConceptsEmpirical saddlepoint approximationFamily disease historyCase-control imbalanceSaddlepoint approximationGenome-wide association analysisPopulation-based genetic association studiesGenetic association testsVariant-phenotype associationsDisease historyGenetic association studiesLow detection powerType I error inflationCorrelation of phenotypesWhite British sampleSupplementary dataAssociation studiesPopulation-based biobanksIncreased phenotypic correlationsKorean GenomeSimulation studyPhenotype distributionPhenotypeAssociation TestBioinformaticsPhenotypic correlations
2020
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank
Bi W, Fritsche L, Mukherjee B, Kim S, Lee S. A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank. American Journal Of Human Genetics 2020, 107: 222-233. PMID: 32589924, PMCID: PMC7413891, DOI: 10.1016/j.ajhg.2020.06.003.Peer-Reviewed Original ResearchConceptsControlled type I error ratesTime-to-event data analysisType I error rateGenetic studies of human diseasesGenome-wide significance levelTime-to-event phenotypesSaddlepoint approximationGenome-wide analysisEuropean ancestry samplesMinor allele frequencyStudy of human diseaseElectronic health recordsCox PH regression modelRegression modelsStandard Wald testProportional hazardsBinary phenotypesData analysisAncestry samplesGenetic studiesHealth recordsUK BiobankAllele frequenciesInpatient dataCox proportional hazards
2019
A Fast and Accurate Method for Genome-wide Scale Phenome-wide G × E Analysis and Its Application to UK Biobank
Bi W, Zhao Z, Dey R, Fritsche L, Mukherjee B, Lee S. A Fast and Accurate Method for Genome-wide Scale Phenome-wide G × E Analysis and Its Application to UK Biobank. American Journal Of Human Genetics 2019, 105: 1182-1192. PMID: 31735295, PMCID: PMC6904814, DOI: 10.1016/j.ajhg.2019.10.008.Peer-Reviewed Original ResearchConceptsCase-control ratioGenome-wide significance levelMeasures of environmental exposureGenome-wide analysisEuropean ancestry samplesGenetic association studiesSaddlepoint approximationCase-control imbalanceAnalysis of phenotypesGene-environment interactionsPopulation-based biobanksControlled type I error ratesAssociation studiesG x E effectsUK BiobankType I error rateGenetic variantsE analysisSPAGEComplex diseasesEnvironmental exposuresTest statisticsE studySimulation studyWald test
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