2024
Evaluation of imputation performance of multiple reference panels in a Pakistani population
Xu J, Liu D, Hassan A, Genovese G, Cote A, Fennessy B, Cheng E, Charney A, Knowles J, Ayub M, Peterson R, Bigdeli T, Huckins L. Evaluation of imputation performance of multiple reference panels in a Pakistani population. Human Genetics And Genomics Advances 2024, 6: 100395. PMID: 39696820, PMCID: PMC11759560, DOI: 10.1016/j.xhgg.2024.100395.Peer-Reviewed Original ResearchGenome-wide association studiesReference panelImputation accuracyMultiple reference panelsPakistani individualsGenotype imputationAssociation studiesGenotype dataAncestry compositionEuropean individualsSample sizeTOPMedDiverse populationsPakistani populationImputationGenomeAncestryIndividualsGenotypesPopulationVariantsFuture panels
2021
Privacy-preserving genotype imputation in a trusted execution environment
Dokmai N, Kockan C, Zhu K, Wang X, Sahinalp S, Cho H. Privacy-preserving genotype imputation in a trusted execution environment. Cell Systems 2021, 12: 983-993.e7. PMID: 34450045, PMCID: PMC8542641, DOI: 10.1016/j.cels.2021.08.001.Peer-Reviewed Original ResearchConceptsTrusted Execution EnvironmentExecution environmentHardware-based solutionsSide-channel attacksIntel SGXEnhanced securityPrivacy concernsAnalysis servicesImputation ServerServer limitData resourcesImputation algorithmSGXServerImputation softwareGenomic data resourcesImputation accuracyGenotype imputationImputation strategiesServicesDownstream analysisScalabilityImputationEssential toolSecurity
2019
A statistical framework for cross-tissue transcriptome-wide association analysis
Hu Y, Li M, Lu Q, Weng H, Wang J, Zekavat SM, Yu Z, Li B, Gu J, Muchnik S, Shi Y, Kunkle BW, Mukherjee S, Natarajan P, Naj A, Kuzma A, Zhao Y, Crane PK, Lu H, Zhao H. A statistical framework for cross-tissue transcriptome-wide association analysis. Nature Genetics 2019, 51: 568-576. PMID: 30804563, PMCID: PMC6788740, DOI: 10.1038/s41588-019-0345-7.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association analysisAssociation analysisGene-trait associationsGene expression dataGene expression levelsGenetic architectureComplex traitsMore genesGene expressionSingle tissueExpression dataAssociation resultsExpression levelsPowerful approachImputation modelHuman tissuesImputation accuracyGenotypesStatistical frameworkTissueGenesKey componentTraitsPowerful metricExpression
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