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 diagnosisCharacteristics Associated With Racial/Ethnic Disparities in COVID-19 Outcomes in an Academic Health Care System
Gu T, Mack J, Salvatore M, Sankar S, Valley T, Singh K, Nallamothu B, Kheterpal S, Lisabeth L, Fritsche L, Mukherjee B. Characteristics Associated With Racial/Ethnic Disparities in COVID-19 Outcomes in an Academic Health Care System. JAMA Network Open 2020, 3: e2025197. PMID: 33084902, PMCID: PMC7578774, DOI: 10.1001/jamanetworkopen.2020.25197.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBetacoronavirusBlack or African AmericanComorbidityCoronavirus InfectionsCOVID-19Diabetes Mellitus, Type 2FemaleHealth Status DisparitiesHospitalizationHumansIntensive Care UnitsKidney DiseasesMaleMichiganMiddle AgedNeoplasmsObesityOdds RatioPandemicsPneumonia, ViralPopulation DensityRetrospective StudiesRisk FactorsSARS-CoV-2White PeopleConceptsAssociated with higher riskInternational Classification of DiseasesRisk of hospitalizationPreexisting type 2 diabetesHigher risk of hospitalizationClassification of DiseasesType 2 diabetesCOVID-19 outcomesRacial/ethnic disparitiesWhite patientsBlack patientsIntensive care unitInternational ClassificationResidential-level socioeconomic characteristicsOdds ratioStatistically significant racial differencesHigh riskAssociated with higher risk of hospitalizationNon-Hispanic blacksAssociation of risk factorsNon-Hispanic whitesMichigan Department of HealthAssociated with increased risk of hospitalizationComorbidity scoreDepartment of HealthRisk of Non-Melanoma Cancers in First-Degree Relatives of CDKN2A Mutation Carriers
Mukherjee B, DeLancey J, Raskin L, Everett J, Jeter J, Begg C, Orlow I, Berwick M, Armstrong B, Kricker A, Marrett L, Millikan R, Culver H, Rosso S, Zanetti R, Kanetsky P, From L, Gruber S, Investigators F. Risk of Non-Melanoma Cancers in First-Degree Relatives of CDKN2A Mutation Carriers. Journal Of The National Cancer Institute 2012, 104: 953-956. PMID: 22534780, PMCID: PMC3379723, DOI: 10.1093/jnci/djs221.Peer-Reviewed Original ResearchConceptsFirst-degree relatives of carriersCDKN2A mutation carriersFirst-degree relativesMutation carriersNon-melanoma cancersFirst-degree relatives of melanoma patientsFirst-degree relatives of mutation carriersKin-cohort methodConfidence intervalsRisk of cancerMelanoma patientsLifetime riskProband's genotypeNon-melanomaFamily membersIncreased riskGastrointestinal cancerCDKN2A mutationsWilms tumorRiskMelanoma StudyPancreatic cancerNoncarriersGenotype distributionMelanoma
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
2008
Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data
Sinha S, Gruber S, Mukherjee B, Rennert G. Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data. The International Journal Of Biostatistics 2008, 4: article 6. PMID: 20231916, PMCID: PMC2835450, DOI: 10.2202/1557-4679.1079.Peer-Reviewed Original ResearchConceptsCase-control studyUnphased genotype dataHardy-Weinberg equilibriumLocus-specific genotype dataGenotype dataBeta-Carotene Cancer Prevention StudyCancer Prevention StudyCase-control study designStudy of breast cancer patientsMatched case-control studyCase-control designPhasing of haplotypesDisease risk modelsBreast cancer patientsPrevention StudyHaplotype effectsStudy designGametic phasePolymorphic lociHaplotype frequenciesCancer patientsLociConditional likelihood approachAssociationHaplotypes
2006
A Score Test for Determining Sample Size in Matched Case‐Control Studies with Categorical Exposure
Sinha S, Mukherjee B. A Score Test for Determining Sample Size in Matched Case‐Control Studies with Categorical Exposure. Biometrical Journal 2006, 48: 35-53. PMID: 16544811, DOI: 10.1002/bimj.200510200.Peer-Reviewed Original ResearchConceptsCase-control studyCategorical exposureMatched case-control studyScore testDichotomous exposureNull hypothesisExposure variablesOdds ratioNatural orderDisease-gene associationsMatched setsDisease riskColorectal cancerPower functionSample sizeAssociationOddsGeneralizationDiseaseSetsScoresEstimationExposureStudyRisk