2021
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes
Bi W, Zhou W, Dey R, Mukherjee B, Sampson J, Lee S. Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes. American Journal Of Human Genetics 2021, 108: 825-839. PMID: 33836139, PMCID: PMC8206161, DOI: 10.1016/j.ajhg.2021.03.019.Peer-Reviewed Original ResearchConceptsOrdinal categorical phenotypesGenome-wide association studiesCategorical phenotypesGenome-wide significant variantsRare variantsPhenotype distributionControlled type I error ratesType I error rateMixed model approachArray genotypingAssociation studiesCommon variantsQuantitative traitsSignificant variantsLogistic mixed modelsLack of analysis toolsUK BiobankLinear mixed model approachPhenotypeAssociation TestVariantsMixed modelsSignificance levelMAFTraits
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