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
2009
Shrinkage estimation for robust and efficient screening of single‐SNP association from case‐control genome‐wide association studies
Luo S, Mukherjee B, Chen J, Chatterjee N. Shrinkage estimation for robust and efficient screening of single‐SNP association from case‐control genome‐wide association studies. Genetic Epidemiology 2009, 33: 740-750. PMID: 19434716, PMCID: PMC3103068, DOI: 10.1002/gepi.20428.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesComputational BiologyComputer SimulationData Interpretation, StatisticalFalse Positive ReactionsGenetic MarkersGenomeGenome, HumanGenome-Wide Association StudyGenotypeHumansLikelihood FunctionsModels, StatisticalPolymorphism, Single NucleotideReproducibility of ResultsConceptsHardy-Weinberg equilibriumAssociation TestPopulation-based case-control designGenome-wide association scanGenome-wide association studiesSingle-SNP associationsCase-control designCase-control studyAssociation scansAssociation studiesGenetic markersSusceptibility SNPsRecessive effectUnderlying populationAssociationFalse-positive resultsEfficient screeningSNPsRare diseaseShrinkage estimatorsSimulation studyStudyTestTwo-degrees-of-freedomPopulation