Featured Publications
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
Fritsche L, Gruber S, Wu Z, Schmidt E, Zawistowski M, Moser S, Blanc V, Brummett C, Kheterpal S, Abecasis G, Mukherjee B. Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. American Journal Of Human Genetics 2018, 102: 1048-1061. PMID: 29779563, PMCID: PMC5992124, DOI: 10.1016/j.ajhg.2018.04.001.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresElectronic health recordsAssociations of polygenic risk scoresPhenome-wide significant associationsPolygenic risk score associationsLongitudinal biorepository effortNon-cancer diagnosesPatients' electronic health recordsPhenome-wide association studyAnalysis of temporal orderMichigan Genomics InitiativeRisk scoreAssociated with multiple phenotypesFemale breast cancerNHGRI-EBI CatalogRisk profileGenetic risk profilesMeasures of genomic variationCancer traitsCase-control studyPheWAS analysisHealth recordsHealth systemMichigan MedicineCancer diagnosis
2023
A randomized trial of a mobile health intervention to augment cardiac rehabilitation
Golbus J, Gupta K, Stevens R, Jeganathan V, Luff E, Shi J, Dempsey W, Boyden T, Mukherjee B, Kohnstamm S, Taralunga V, Kheterpal V, Murphy S, Klasnja P, Kheterpal S, Nallamothu B. A randomized trial of a mobile health intervention to augment cardiac rehabilitation. Npj Digital Medicine 2023, 6: 173. PMID: 37709933, PMCID: PMC10502072, DOI: 10.1038/s41746-023-00921-9.Peer-Reviewed Original ResearchCentre-based cardiac rehabilitationMHealth interventionsCentre-based CRPhysical activity levelsMobile health interventionsPositive health behaviorsPrimary outcomeCR careIntervention participantsRandomized trialsCardiac rehabilitationModerate risk patientsHealth behaviorsMobile healthHealth interventionsHealth systemWalking distanceText messagesMHealthActivity levelsRandomized clinical trialsSecondary outcomesInterventionParticipantsHealth
2022
Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification
Beesley L, Mukherjee B. Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification. Statistics In Medicine 2022, 41: 5501-5516. PMID: 36131394, PMCID: PMC9826451, DOI: 10.1002/sim.9579.Peer-Reviewed Original ResearchConceptsElectronic health recordsElectronic health record data analysisElectronic health record settingsLeverages external data sourcesElectronic health record dataPopulation-based data sourcesEHR-based researchLongitudinal health informationUniversity of Michigan Health SystemHealth record dataSelection biasPopulation-based researchMichigan Health SystemMultiple sources of biasFactors related to selectionPatient-level dataHealth recordsHealth systemHealth informationPhenotype misclassificationSummary estimatesPhenotyping errorsCancer diagnosisSources of biasRecord data
2020
An analytic framework for exploring sampling and observation process biases in genome and phenome‐wide association studies using electronic health records
Beesley L, Fritsche L, Mukherjee B. An analytic framework for exploring sampling and observation process biases in genome and phenome‐wide association studies using electronic health records. Statistics In Medicine 2020, 39: 1965-1979. PMID: 32198773, DOI: 10.1002/sim.8524.Peer-Reviewed Original ResearchConceptsElectronic health recordsHealth recordsAssociation studiesObservational health care databasesElectronic health record dataLongitudinal biorepository effortPhenome-wide association studyMichigan Genomics InitiativeHealth record dataHealth care databasesDisease-gene association studiesMichigan Health SystemCare databaseHealth systemPhenotype misclassificationStudy biasRecord dataNonprobability samplingAssociation analysisData sourcesGenome InitiativeMisclassificationAnalysis approachRecordsSensitivity analysis