2024
Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank
Jin W, Boss J, Bakulski K, Goutman S, Feldman E, Fritsche L, Mukherjee B. Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank. Journal Of Neurology 2024, 271: 6923-6934. PMID: 39249108, DOI: 10.1007/s00415-024-12644-2.Peer-Reviewed Original ResearchPolygenic risk scoresRisk scorePre-existing conditionsPhenome-wide association studyControls of European descentPhenotype risk scoreUK Biobank dataAmyotrophic lateral sclerosis riskRisk score distributionIncreased ALS riskInfluence of environmental exposuresExposure-related factorsCombined risk scoreUK BiobankAmyotrophic lateral sclerosisBaseline demographic covariatesBiobank dataPRS-CSALS riskAmyotrophic lateral sclerosis diagnosisDiagnosis 1Demographic covariatesAssociation studiesEuropean descentMethodsUtilizing data
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