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
2014
HUGO: Hierarchical mUlti-reference Genome cOmpression for aligned reads
Li P, Jiang X, Wang S, Kim J, Xiong H, Ohno-Machado L. HUGO: Hierarchical mUlti-reference Genome cOmpression for aligned reads. Journal Of The American Medical Informatics Association 2014, 21: 363-373. PMID: 24368726, PMCID: PMC3932469, DOI: 10.1136/amiajnl-2013-002147.Peer-Reviewed Original ResearchConceptsBase quality valuesCompression algorithmStorage savingsGenome compressionSequence Alignment/Map (SAM) formatCompression ratioNovel compression algorithmComparable compression ratioCompression mechanismK-means clusteringDifferent reference genomesQuality valuesDecompression qualityLossless compressionExecution timeCompression rateAligned readsMap formatAlgorithmBiomedical communityDifferent quality valuesExperimental datasetsAdaptive schemeStorage capabilityArchiving
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
2004
Genomic Analysis of Mouse Retinal Development
Blackshaw S, Harpavat S, Trimarchi J, Cai L, Huang H, Kuo W, Weber G, Lee K, Fraioli R, Cho S, Yung R, Asch E, Ohno-Machado L, Wong W, Cepko C. Genomic Analysis of Mouse Retinal Development. PLOS Biology 2004, 2: e247. PMID: 15226823, PMCID: PMC439783, DOI: 10.1371/journal.pbio.0020247.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBromodeoxyuridineCell LineageChromosome MappingCluster AnalysisComputational BiologyDatabases, GeneticExpressed Sequence TagsGene Expression RegulationGene Expression Regulation, DevelopmentalGene LibraryGenomeIn Situ HybridizationInterneuronsMiceMitosisMolecular Sequence DataNeurogliaOpen Reading FramesRetinaRNA, MessengerStem CellsTime FactorsConceptsMitotic progenitor cellsRetinal cell typesGene expressionCell typesExpression patternsRetinal developmentDevelopmental gene expression patternsGene expression patternsMajor retinal cell typesOpen reading frameProgenitor cellsMüller gliaPhotoreceptor-enriched genesGene expression profilesMouse retinal developmentMajor cell typesRetinal disease genesGenomic analysisMultiple retinal cell typesChromosomal intervalMolecular atlasMultiple transcriptsReading frameTaxonomic classificationDisease genes