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
2017
Rare‐variant association tests in longitudinal studies, with an application to the Multi‐Ethnic Study of Atherosclerosis (MESA)
He Z, Lee S, Zhang M, Smith J, Guo X, Palmas W, Kardia S, Ionita‐Laza I, Mukherjee B. Rare‐variant association tests in longitudinal studies, with an application to the Multi‐Ethnic Study of Atherosclerosis (MESA). Genetic Epidemiology 2017, 41: 801-810. PMID: 29076270, PMCID: PMC5696115, DOI: 10.1002/gepi.22081.Peer-Reviewed Original ResearchConceptsMulti-Ethnic Study of AtherosclerosisMulti-Ethnic StudyStudy of AtherosclerosisType I error rateRare-variant association testsRare variantsGene-based association testsRare-variant associationsAssociation TestLongitudinal outcomesLongitudinal studyExome sequencing dataMeasurement of blood pressureGenomic regionsSequence dataTrait heritabilitySequencing studiesMeasured outcomesGenetic variantsVariant analysisModerate sample sizesIndividual variantsRobust to misspecificationWithin-subject correlationStatistical power