2022
Incorporating 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
Interaction analysis under misspecification of main effects: Some common mistakes and simple solutions
Zhang M, Yu Y, Wang S, Salvatore M, Fritsche L, He Z, Mukherjee B. Interaction analysis under misspecification of main effects: Some common mistakes and simple solutions. Statistics In Medicine 2020, 39: 1675-1694. PMID: 32101638, DOI: 10.1002/sim.8505.Peer-Reviewed Original ResearchConceptsType I error rateType I error inflationIndependence assumptionWald and score testsCorrect type I error ratesSandwich variance estimatorSandwich estimatorScore testVariance estimationSimulation studyMisspecificationMichigan Genomics InitiativeStatistical practiceBinary outcomesTested interactionsEmpirical factsFlexible modelData modelTest of interactionBiobank studyInflationAssumptionsContinuous outcomesEpidemiological literatureLinear regression models