Featured Publications
Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini-exome data
Yan X, Li L, Lee JS, Zheng W, Ferguson J, Zhao H. Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini-exome data. BMC Proceedings 2011, 5: s27. PMID: 22373324, PMCID: PMC3287862, DOI: 10.1186/1753-6561-5-s9-s27.Peer-Reviewed Original ResearchFunctional annotationCommon variantsDisease-associated common variantsGenetic Analysis Workshop 17 mini-exome dataGenetic Analysis Workshop 17 dataRare variantsFunctional rare variantsGenomic blocksSequencing technologiesAssociation studiesSynonymous variantsTag SNPsDifferent rare variantsAnnotationGenetic factorsRecent studiesVariantsVariant assumptionsHeritabilitySNPsCommon diseaseDisease riskRare exceptions
2011
Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data
Li L, Zheng W, Lee JS, Zhang X, Ferguson J, Yan X, Zhao H. Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data. BMC Proceedings 2011, 5: s117. PMID: 22373309, PMCID: PMC3287841, DOI: 10.1186/1753-6561-5-s9-s117.Peer-Reviewed Original ResearchMinor allele frequencyCausal variantsGenetic Analysis Workshop 17 mini-exome dataSingle gene analysisLow minor allele frequencyGAW17 data setRare variantsFalse positive genesFunctional annotationPhenotypic varianceTop genesGenotypic dataNoncausal variantsAssociation dataGenetic effectsAssociation TestUnrelated individualsAllele frequenciesGenesSame genotype distributionBayesian mixed-effects modelsVariantsSimilar genotype distributionGAW17Traits