2019
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb
Fritsche L, Beesley L, VandeHaar P, Peng R, Salvatore M, Zawistowski M, Taliun S, Das S, LeFaive J, Kaleba E, Klumpner T, Moser S, Blanc V, Brummett C, Kheterpal S, Abecasis G, Gruber S, Mukherjee B. Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb. PLOS Genetics 2019, 15: e1008202. PMID: 31194742, PMCID: PMC6592565, DOI: 10.1371/journal.pgen.1008202.Peer-Reviewed Original ResearchConceptsMichigan Genomics InitiativeElectronic health recordsPolygenic risk scoresSkin cancer subtypesPheWAS resultsUK BiobankElectronic health record dataLongitudinal biorepository effortPhenome-wide association studyRisk scoreHealth record dataUK Biobank dataPrediction of disease riskPublicly-available sourcesHealth recordsGenetic architectureBiobank dataMichigan MedicineRecord dataSecondary phenotypesDisease riskVisual catalogAssociation studiesGenome InitiativePheWAS
2013
Transcriptome Profiling Identifies HMGA2 as a Biomarker of Melanoma Progression and Prognosis
Raskin L, Fullen D, Giordano T, Thomas D, Frohm M, B. K, Ahn J, Mukherjee B, Johnson T, Gruber S. Transcriptome Profiling Identifies HMGA2 as a Biomarker of Melanoma Progression and Prognosis. Journal Of Investigative Dermatology 2013, 133: 2585-2592. PMID: 23633021, PMCID: PMC4267221, DOI: 10.1038/jid.2013.197.Peer-Reviewed Original ResearchConceptsAmerican Joint Committee on CancerOverall survivalTissue microarrayPrimary melanomaMelanoma pathogenesisMelanoma progressionAssociated with disease-free survivalAnalysis of tissue microarraysMetastases-free survivalDisease-free survivalHMGA2 overexpressionCox proportional hazards regression modelsLog-rank testPredictors of survivalProportional hazards regression modelsHazards regression modelsBRAF/NRAS mutationsPrimary tumorPrognostic featuresMelanoma metastasesClinicopathological characteristicsReal-time PCRGenetic alterationsAQUA analysisMelanoma development