Featured Publications
To weight or not to weight? The effect of selection bias in 3 large electronic health record-linked biobanks and recommendations for practice
Salvatore M, Kundu R, Shi X, Friese C, Lee S, Fritsche L, Mondul A, Hanauer D, Pearce C, Mukherjee B. To weight or not to weight? The effect of selection bias in 3 large electronic health record-linked biobanks and recommendations for practice. Journal Of The American Medical Informatics Association 2024, 31: 1479-1492. PMID: 38742457, PMCID: PMC11187425, DOI: 10.1093/jamia/ocae098.Peer-Reviewed Original ResearchEHR-linked biobanksNational Health Interview Survey dataHealth Interview Survey dataPhenome-wide association studyMichigan Genomics InitiativeElectronic health record-linked biobankTarget populationInterview Survey dataColorectal cancerUS adult populationSelection biasUK BiobankAssociation estimatesBiobank dataRecruitment strategiesEffect of selection biasICD codesLog odds ratioUKBSelection weightsEffect sizeAssociation studiesAdult populationBiobankImpact prevalence
2023
Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks
Fritsche L, Nam K, Du J, Kundu R, Salvatore M, Shi X, Lee S, Burgess S, Mukherjee B. Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks. PLOS Genetics 2023, 19: e1010907. PMID: 38113267, PMCID: PMC10763941, DOI: 10.1371/journal.pgen.1010907.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresMichigan Genomics InitiativeUK BiobankPre-existing conditionsPhenome-wide association studyAssociation studiesCohort-specific analysesPolygenic risk score approachUK Biobank cohortMeta-analysisIncreased risk of hospitalizationGenome-wide association studiesBody mass indexRisk of hospitalizationIdentified novel associationsRisk score approachCOVID-19 outcome dataCOVID-19 hospitalizationCOVID-19Mass indexRisk scoreBiobankCardiovascular conditionsCOVID-19 severityIncreased risk
2022
ExPRSweb: An online repository with polygenic risk scores for common health-related exposures
Ma Y, Patil S, Zhou X, Mukherjee B, Fritsche L. ExPRSweb: An online repository with polygenic risk scores for common health-related exposures. American Journal Of Human Genetics 2022, 109: 1742-1760. PMID: 36152628, PMCID: PMC9606385, DOI: 10.1016/j.ajhg.2022.09.001.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresChronic conditionsPhenome-wide association studyMichigan Genomics InitiativeRisk scoreAssociation studiesHealth-related exposuresGenome-wide association studiesUK BiobankGenetic risk factorsPRS methodsFollow-up studyRisk factorsComplex traitsGenome InitiativeGenetic modifiersBiobankInfluence of exposureEnvironmental variablesScoresLipid levelsExpRLifestyleSmokingOnline repository
2020
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks
Fritsche L, Patil S, Beesley L, VandeHaar P, Salvatore M, Ma Y, Peng R, Taliun D, Zhou X, Mukherjee B. Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. American Journal Of Human Genetics 2020, 107: 815-836. PMID: 32991828, PMCID: PMC7675001, DOI: 10.1016/j.ajhg.2020.08.025.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresGenome-wide association studiesMichigan Genomics InitiativeUK BiobankPopulation-based UK BiobankPolygenic risk score constructionPublished genome-wide association studiesLongitudinal biorepository effortAssociation studiesPredictive polygenic risk scoresRisk scoreNHGRI-EBI GWAS CatalogCancer traitsIndependent biobankMichigan MedicineGWAS CatalogGenome InitiativeBiobankScoresTraitsCancer researchOnline repositoryMichiganMedicineEvaluation
2019
The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities
Beesley L, Salvatore M, Fritsche L, Pandit A, Rao A, Brummett C, Willer C, Lisabeth L, Mukherjee B. The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities. Statistics In Medicine 2019, 39: 773-800. PMID: 31859414, PMCID: PMC7983809, DOI: 10.1002/sim.8445.Peer-Reviewed Original ResearchConceptsElectronic health recordsHealth recordsMichigan Genomics InitiativeBiobank-based studiesHealth-related researchUK BiobankHealth researchDisease-gene associationsStudy designAgnostic searchBiobankDisease-treatmentInformatics infrastructureHypothesis-generating studyPhenotypic identificationGenome InitiativeMissing dataResource catalogExploratory questionsCurrent bodyBiobank researchData typesMedical researchRecruitment mechanismsPractical guidance