Featured Publications
Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction
Zhuang Y, Kim N, Fritsche L, Mukherjee B, Lee S. Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction. BMC Bioinformatics 2024, 25: 65. PMID: 38336614, PMCID: PMC11323637, DOI: 10.1186/s12859-024-05664-2.Peer-Reviewed Original ResearchConceptsPredictive performance of polygenic risk scoresFunctional annotationGenetic architecturePerformance of polygenic risk scoresPRS-CSAnnotation informationPolygenic risk predictionGenetic risk predictionPolygenic risk scoresFunctional annotation informationKyoto Encyclopedia of GenesRisk predictionProportion of variantsEncyclopedia of GenesGenomes (KEGGSource of annotationTrait heritabilityAnnotation groupsPathway informationQuantitative traitsKyoto EncyclopediaFunctional categoriesBackgroundGenetic variantsHeritable contributionReal world data sources
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
2022
The construction of cross-population polygenic risk scores using transfer learning
Zhao Z, Fritsche L, Smith J, Mukherjee B, Lee S. The construction of cross-population polygenic risk scores using transfer learning. American Journal Of Human Genetics 2022, 109: 1998-2008. PMID: 36240765, PMCID: PMC9674947, DOI: 10.1016/j.ajhg.2022.09.010.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic risk scoresAncestry groupsTransferability of PRSPRS-CSPolygenic risk score methodsEuropean ancestry cohortsIndividuals of African ancestryIndividuals of South Asian ancestryNon-European ancestry groupsNon-European ancestrySouth Asian ancestryAssociation studiesDichotomous traitsSouth Asian sampleEuropean ancestryGenetic researchPRS modelAncestryAsian ancestryAfrican ancestryAfrican samplesUK BiobankRisk scoreAsian samples