2022
The evolving privacy and security concerns for genomic data analysis and sharing as observed from the iDASH competition
Kuo T, Jiang X, Tang H, Wang X, Harmanci A, Kim M, Post K, Bu D, Bath T, Kim J, Liu W, Chen H, Ohno-Machado L. The evolving privacy and security concerns for genomic data analysis and sharing as observed from the iDASH competition. Journal Of The American Medical Informatics Association 2022, 29: 2182-2190. PMID: 36164820, PMCID: PMC9667175, DOI: 10.1093/jamia/ocac165.Peer-Reviewed Original ResearchConceptsSensitive personal informationGenomic data analysisPotential future research directionsPersonal informationSecurity concernsGenomics data repositoryData repositoryReport lessonsProtection techniquesFuture research directionsPrivacyResearch directionsData usePractical challengesGenomic dataData analysisAnonymizationCommunity effortsRepositorySecurityBiomedical researchInformationDataChallenges
2021
Benchmarking blockchain-based gene-drug interaction data sharing methods: A case study from the iDASH 2019 secure genome analysis competition blockchain track
Kuo T, Bath T, Ma S, Pattengale N, Yang M, Cao Y, Hudson C, Kim J, Post K, Xiong L, Ohno-Machado L. Benchmarking blockchain-based gene-drug interaction data sharing methods: A case study from the iDASH 2019 secure genome analysis competition blockchain track. International Journal Of Medical Informatics 2021, 154: 104559. PMID: 34474309, PMCID: PMC9933142, DOI: 10.1016/j.ijmedinf.2021.104559.Peer-Reviewed Original ResearchConceptsSecure genome analysis competitionData retrieval queriesBlockchain-based methodData sharing methodReal-world problemsQuery indexType of sharingRetrieval queriesBlockchain technologyLedger technologySource codeBlockchain utilizationBlockchain strategyHealthcare applicationsInteraction recordsSharing methodTest datasetSharing recordsBiomedical research applicationsConsortium resourcesNew platformPatient recordsBlockchainQueriesTechnology
2020
Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1
Rawat P, Brummel S, Singh K, Kim J, Frazer K, Nichols S, Seage G, Williams P, Van Dyke R, Harismendy O, Trout R, Spector S. Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1. The Journal Of Infectious Diseases 2020, 224: 870-880. PMID: 33373444, PMCID: PMC8408770, DOI: 10.1093/infdis/jiaa792.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsChildChild, PreschoolFemaleGenome-Wide Association StudyGenomicsHIV InfectionsHIV-1HumansInfantInfectious Disease Transmission, VerticalInflammasomesInflammationIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsMicrogliaNeurocognitive DisordersReceptors, CCRConceptsWhole-exome sequencingValidation cohortNeurocognitive impairmentOdds ratioRisk of NCIHuman immunodeficiency virus type 1Immunodeficiency virus type 1Single nucleotide variantsAdjusted odds ratioIL-1β releaseVirus type 1Microglial releaseIL-1βHuman microgliaDecreased oddsType 1Logistic regressionCognitive scoresCCRL2MicrogliaFurther studiesHIVInflammationCsACohortPrivacy-preserving model learning on a blockchain network-of-networks
Kuo T, Kim J, Gabriel R. Privacy-preserving model learning on a blockchain network-of-networks. Journal Of The American Medical Informatics Association 2020, 27: 343-354. PMID: 31943009, PMCID: PMC7025358, DOI: 10.1093/jamia/ocz214.Peer-Reviewed Original ResearchConceptsNetwork topologyExecution timeArt methodsPredictive correctnessPrivacy-preserving learningPrivacy-preserving methodsPrivacy-preserving modelSmall training datasetBlockchain networkBlockchain platformBlockchain technologyPrivacy concernsModel learningComplex dataLearning iterationsLearning methodsTraining datasetConsensus algorithmGeneralizable predictive modelsCorrectness resultsModel disseminationHierarchical networkSmall dataHierarchical approachRecord model
2019
Evaluating and sharing global genetic ancestry in biomedical datasets
Harismendy O, Kim J, Xu X, Ohno-Machado L. Evaluating and sharing global genetic ancestry in biomedical datasets. Journal Of The American Medical Informatics Association 2019, 26: 457-461. PMID: 30869786, PMCID: PMC6433181, DOI: 10.1093/jamia/ocy194.Peer-Reviewed Original ResearchConceptsGenetic diversity measurementsGenetic ancestryAvailable molecular datasetsHuman genetics researchCancer Genome Atlas (TCGA) datasetContinental resolutionGenetic diversityPhenotype-genotype associationsMolecular datasetsGlobal genetic ancestryAncestry informationGenetic researchAtlas datasetDiversity measurementsAncestryTraitsGlobal scaleDiversityBiomedical datasetsAvailable datasetsData repositoryDisease riskAccess datasetDatasetAvailable cohorts
2018
Genomics and electronic health record systems
Ohno-Machado L, Kim J, Gabriel R, Kuo G, Hogarth M. Genomics and electronic health record systems. Human Molecular Genetics 2018, 27: r48-r55. PMID: 29741693, PMCID: PMC5946823, DOI: 10.1093/hmg/ddy104.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsElectronic health recordsHigh-level viewElectronic health record systemsHealth record systemsNext generation systemsEHR systemsSeamless fashionOpen issuesMyriad of approachesHealth recordsRecord systemSpecific solutionsEnd goalSources of informationAnalysis of genomesInformationCustomizationSystemGeneration systemVisionDegrees of successFunctionality
2017
PinAPL-Py: A comprehensive web-application for the analysis of CRISPR/Cas9 screens
Spahn P, Bath T, Weiss R, Kim J, Esko J, Lewis N, Harismendy O. PinAPL-Py: A comprehensive web-application for the analysis of CRISPR/Cas9 screens. Scientific Reports 2017, 7: 15854. PMID: 29158538, PMCID: PMC5696473, DOI: 10.1038/s41598-017-16193-9.Peer-Reviewed Original ResearchConceptsCRISPR/Large-scale genetic screensCRISPR/Cas9Publication-ready plotsSequence quality controlPlatform-independent analysisUser-friendly implementationLarge sequencing datasetsGenetic screenAnalysis optionsFunctional genomicsPooled screensSgRNA libraryBioinformatics toolsSequencing datasetsComprehensive functionalityExperimental biologistsBioinformatics expertiseArt toolsCustom libraryLimited functionalityTest datasetSequence extractionGene rankingIncreased popularity
2016
PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS
Chen F, Wang S, Jiang X, Ding S, Lu Y, Kim J, Sahinalp S, Shimizu C, Burns J, Wright V, Png E, Hibberd M, Lloyd D, Yang H, Telenti A, Bloss C, Fox D, Lauter K, Ohno-Machado L. PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS. Bioinformatics 2016, 33: 871-878. PMID: 28065902, PMCID: PMC5860394, DOI: 10.1093/bioinformatics/btw758.Peer-Reviewed Original ResearchConceptsSoftware Guard ExtensionsHomomorphic encryptionDistributed ComputationCollaboration frameworkTrustworthy computationCollaboration modelSupplementary dataNetwork collaborationEncryptionExperimental resultsHealth informationAlternative solutionComputationInternational collaboration frameworkHardwareAccurate analysisPerformanceBioinformaticsImplementationFrameworkDataExtensionInformationCollaboration
2013
DNA-COMPACT: DNA COMpression Based on a Pattern-Aware Contextual Modeling Technique
Li P, Wang S, Kim J, Xiong H, Ohno-Machado L, Jiang X. DNA-COMPACT: DNA COMpression Based on a Pattern-Aware Contextual Modeling Technique. PLOS ONE 2013, 8: e80377. PMID: 24282536, PMCID: PMC3840021, DOI: 10.1371/journal.pone.0080377.Peer-Reviewed Original ResearchConceptsReference-free compressionDisk storage capacityCompression algorithmDecompression costData transferringArt algorithmsCompression performanceFile sizeGenome compressionCompression rateBit rateAlgorithmDNA compressionBiomedical researchersPerformance advantagesGenome dataModeling techniquesContextual modelImportant concernResearch purposesCompressionPerformanceStorage capacityBitsReference sequence