Search results for "nucleotide"

showing 10 items of 2180 documents

Parallel and Space-Efficient Construction of Burrows-Wheeler Transform and Suffix Array for Big Genome Data

2016

Next-generation sequencing technologies have led to the sequencing of more and more genomes, propelling related research into the era of big data. In this paper, we present ParaBWT, a parallelized Burrows-Wheeler transform (BWT) and suffix array construction algorithm for big genome data. In ParaBWT, we have investigated a progressive construction approach to constructing the BWT of single genome sequences in linear space complexity, but with a small constant factor. This approach has been further parallelized using multi-threading based on a master-slave coprocessing model. After gaining the BWT, the suffix array is constructed in a memory-efficient manner. The performance of ParaBWT has b…

0301 basic medicineTheoretical computer scienceBurrows–Wheeler transformComputer scienceGenomicsData_CODINGANDINFORMATIONTHEORYParallel computingGenomelaw.invention03 medical and health scienceslawGeneticsHumansEnsemblMulti-core processorApplied MathematicsLinear spaceSuffix arrayChromosome MappingHigh-Throughput Nucleotide SequencingGenomicsSequence Analysis DNA030104 developmental biologyAlgorithmsBiotechnologyReference genomeIEEE/ACM Transactions on Computational Biology and Bioinformatics
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A detailed experimental study of a DNA computer with two endonucleases

2017

Abstract Great advances in biotechnology have allowed the construction of a computer from DNA. One of the proposed solutions is a biomolecular finite automaton, a simple two-state DNA computer without memory, which was presented by Ehud Shapiro’s group at the Weizmann Institute of Science. The main problem with this computer, in which biomolecules carry out logical operations, is its complexity – increasing the number of states of biomolecular automata. In this study, we constructed (in laboratory conditions) a six-state DNA computer that uses two endonucleases (e.g. AcuI and BbvI) and a ligase. We have presented a detailed experimental verification of its feasibility. We described the effe…

0301 basic medicineTheoretical computer scienceDNA LigasesComputer scienceCarry (arithmetic)Oligonucleotides0102 computer and information sciencesBioinformatics01 natural sciencesGeneral Biochemistry Genetics and Molecular Biologylaw.inventionAutomationComputers Molecular03 medical and health sciencesDNA computinglawA-DNADeoxyribonucleases Type II Site-Specificchemistry.chemical_classificationDNA ligaseFinite-state machineBase Sequencebiomolecular computers; DNA computing; finite automataProcess (computing)DNAModels TheoreticalEndonucleasesAutomaton030104 developmental biologychemistry010201 computation theory & mathematicsWord (computer architecture)Zeitschrift für Naturforschung C
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Accelerating metagenomic read classification on CUDA-enabled GPUs.

2016

Metagenomic sequencing studies are becoming increasingly popular with prominent examples including the sequencing of human microbiomes and diverse environments. A fundamental computational problem in this context is read classification; i.e. the assignment of each read to a taxonomic label. Due to the large number of reads produced by modern high-throughput sequencing technologies and the rapidly increasing number of available reference genomes software tools for fast and accurate metagenomic read classification are urgently needed. We present cuCLARK, a read-level classifier for CUDA-enabled GPUs, based on the fast and accurate classification of metagenomic sequences using reduced k-mers (…

0301 basic medicineTheoretical computer scienceWorkstationGPUsComputer scienceContext (language use)CUDAParallel computingBiochemistryGenomelaw.invention03 medical and health sciencesCUDAUser-Computer Interface0302 clinical medicineStructural BiologylawTaxonomic assignmentHumansMicrobiomeMolecular BiologyInternetXeonApplied MathematicsHigh-Throughput Nucleotide SequencingSequence Analysis DNAExact k-mer matchingComputer Science Applications030104 developmental biologyTitan (supercomputer)Metagenomics030220 oncology & carcinogenesisMetagenomicsDNA microarraySoftwareBMC bioinformatics
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Whole genome sequencing-based analysis of tuberculosis (TB) in migrants: rapid tools for cross-border surveillance and to distinguish between recent …

2019

14 páginas, 7 figuras

0301 basic medicineTuberculosisEpidemiology030106 microbiologyPopulationSingle-nucleotide polymorphismImmigrationMinisatellite RepeatsBiologyPolymerase Chain ReactionPolymorphism Single NucleotideMigrantslaw.inventionCross-border surveillance03 medical and health scienceslawVirologymedicineHumansTransmissionTuberculosiseducationGenotypingRetrospective StudiesWhole genome sequencingTransients and Migrantseducation.field_of_studySurveillanceMolecular epidemiologyPublic Health Environmental and Occupational HealthMycobacterium tuberculosisEmigration and Immigrationmedicine.diseaseImportationCountry of origin3. Good healthBacterial Typing Techniques030104 developmental biologyTransmission (mechanics)TBEvolutionary biologySpainMolecular epidemiologyWhole genome sequencingSentinel SurveillanceWGSMultilocus Sequence Typing
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Dom34 Links Translation to Protein O-mannosylation.

2016

In eukaryotes, Dom34 upregulates translation by securing levels of activatable ribosomal subunits. We found that in the yeast Saccharomyces cerevisiae and the human fungal pathogen Candida albicans, Dom34 interacts genetically with Pmt1, a major isoform of protein O-mannosyltransferase. In C. albicans, lack of Dom34 exacerbated defective phenotypes of pmt1 mutants, while they were ameliorated by Dom34 overproduction that enhanced Pmt1 protein but not PMT1 transcript levels. Translational effects of Dom34 required the 5′-UTR of the PMT1 transcript, which bound recombinant Dom34 directly at a CA/AC-rich sequence and regulated in vitro translation. Polysomal profiling revealed that Dom34 stimu…

0301 basic medicineUntranslated regionCancer ResearchGlycosylationMolecular biologyHydrolasesOligonucleotidesGene ExpressionRNA-binding proteinCell Cycle ProteinsYeast and Fungal ModelsPathology and Laboratory MedicineMannosyltransferasesBiochemistryTranscription (biology)Untranslated RegionsCandida albicansMedicine and Health SciencesProtein IsoformsGenetics (clinical)CandidaFungal PathogensNucleotidesMessenger RNACell biologyEnzymesNucleic acidsDenaturationPhenotypesPhenotypeMedical MicrobiologySaccharomyces CerevisiaePathogensResearch ArticleGene isoformSaccharomyces cerevisiae Proteinslcsh:QH426-470NucleasesSaccharomyces cerevisiaeMycologyBiologyResearch and Analysis MethodsMicrobiology03 medical and health sciencesSaccharomycesModel OrganismsRibonucleasesDownregulation and upregulationEndoribonucleasesDNA-binding proteinsGeneticsHumansGeneMicrobial PathogensEcology Evolution Behavior and Systematics030102 biochemistry & molecular biologyOrganismsFungiBiology and Life SciencesProteinsRibosomal RNAbiology.organism_classificationMolecular biologyYeastRNA denaturationlcsh:Genetics030104 developmental biologyMolecular biology techniquesProtein BiosynthesisEnzymologyRNAProtein TranslationRibosomesPLoS Genetics
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Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.

2016

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet medical need. Looking for a novel biomarker, and given that specific miRNAs have been found to be misregulated in DM1 heart and muscle tissues, we profiled the expression of 175 known serum miRNAs in …

0301 basic medicineUntranslated regionMalePathologyPhysiologylcsh:MedicineArtificial Gene Amplification and ExtensionDiseaseBioinformaticsBiochemistryPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsMedicine and Health SciencesMyotonic Dystrophylcsh:ScienceMusculoskeletal SystemMultidisciplinaryMusclesHematologyMiddle Aged3. Good healthBody FluidsNucleic acidsBlotting SouthernBloodGenetic DiseasesBiomarker (medicine)AnatomyResearch ArticleAdultmusculoskeletal diseasesmedicine.medical_specialtyBiologyResearch and Analysis MethodsMyotonic dystrophy03 medical and health sciencesExtraction techniquesmicroRNAmedicineGeneticsHumansNon-coding RNAMolecular Biology TechniquesGeneMolecular BiologyClinical GeneticsBiology and life sciencesGene Expression Profilinglcsh:Rmedicine.diseaseRNA extractionGene regulationGene expression profilingMicroRNAs030104 developmental biologySkeletal MusclesRNAlcsh:QGene expressionAge of onset030217 neurology & neurosurgeryBiomarkersPLoS ONE
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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

0301 basic medicineUntranslated regionTranscription GeneticCDKL5lcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryExonMice0302 clinical medicineCoding regionProtein Isoformslcsh:ScienceGeneticsRegulation of gene expressionMultidisciplinaryMammalian GenomicsHigh-Throughput Nucleotide SequencingExonsGenomicsNucleic acidsRNA isolationPhenotypeSpasms InfantileResearch ArticleGene isoformBiologyProtein Serine-Threonine KinasesPolyadenylationResearch and Analysis MethodsBiomolecular isolation03 medical and health sciencesGeneticsAnimalsHumansAdultsAmino Acid SequenceMolecular Biology TechniquesGeneMolecular BiologyAlternative splicinglcsh:RGene MappingInfant NewbornBiology and Life SciencesReverse Transcriptase-Polymerase Chain ReactionAlternative Splicing030104 developmental biologyGene Expression RegulationRNA processingAge GroupsAnimal GenomicsMutationPeople and PlacesExon MappingRNAlcsh:QPopulation Groupings030217 neurology & neurosurgeryPloS one
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In silico pathway analysis in cervical carcinoma reveals potential new targets for treatment

2016

Abstract: An in silico pathway analysis was performed in order to improve current knowledge on the molecular drivers of cervical cancer and detect potential targets for treatment. Three publicly available Affymetrix gene expression data-sets (GSE5787, GSE7803, GSE9750) were retrieved, vouching for a total of 9 cervical cancer cell lines (CCCLs), 39 normal cervical samples, 7 CIN3 samples and 111 cervical cancer samples (CCSs). Predication analysis of microarrays was performed in the Affymetrix sets to identify cervical cancer biomarkers. To select cancer cell-specific genes the CCSs were compared to the CCCLs. Validated genes were submitted to a gene set enrichment analysis (GSEA) and Expre…

0301 basic medicineUterine Cervical NeoplasmMAPK3Uterine Cervical NeoplasmsBioinformaticsHeLa CellMitogen-Activated Protein Kinase0302 clinical medicineTransforming Growth Factor betaMedicineOligonucleotide Array Sequence AnalysisCancerCervical cancerABLCell CycleIn silico pathway analysiCell cycleGene Expression Regulation NeoplasticOncology030220 oncology & carcinogenesisFemaleDNA microarrayMitogen-Activated Protein KinasesTreatment targetResearch PaperHumanin silico pathway analysisMAP Kinase Signaling SystemIn silicoComputational biologytreatment targetsProto-Oncogene Proteins c-myc03 medical and health sciencesCell Line TumorBiomarkers TumorHumansComputer SimulationAmino Acid SequenceBiologyCervical carcinomabusiness.industryOligonucleotide Array Sequence AnalysiGene Expression ProfilingCancerComputational Biologymedicine.diseaseChromatin Assembly and DisassemblyGene expression profiling030104 developmental biologyHuman medicinebusinessHeLa CellsOncotarget
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Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…

2020

Background: Congenital heart defects (CHDs) are present in about 40&ndash

0301 basic medicineVEGFAAdultHeart Defects CongenitalMaleVascular Endothelial Growth Factor ADown syndromelcsh:QH426-470AdolescentChromosomes Human Pair 21Down syndromeSNPSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesHeart disorder0302 clinical medicineGenotypeGeneticsmedicineHumansGeneGenetics (clinical)IFNRReceptors InterferonGeneticsmedicine.diseasePhenotypeHeart defectlcsh:GeneticsVascular endothelial growth factor A030104 developmental biologySettore MED/03 - Genetica Medica030220 oncology & carcinogenesisMultigene Familyheart defectsFemaleChromosome 21SNPsGenes
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Vitamin D and Genetic Susceptibility to Multiple Sclerosis.

2019

Multiple sclerosis (MS) is an autoimmune disease affecting the central nervous system (CNS), resulting from the interaction among genetic, epigenetic, and environmental factors. Vitamin D is a secosteroid, and its circulating levels are influenced by environment and genetics. In the last decades, research data on the association between MS and vitamin D status led to hypothesize a possible role for hypovitaminosis D as a risk factor for MS. Some gene variants encoding proteins involved in vitamin D metabolism, transport, and function, which are responsible for vitamin D status alterations, have been related to MS susceptibility. This review explores the current literature on the influence o…

0301 basic medicineVitaminMaleRiskMultiple SclerosisSNPSingle-nucleotide polymorphismBiologyBiochemistryCalcitriol receptorGenePolymorphism Single Nucleotide03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCYP24A1GeneticCytochrome P-450 Enzyme SystemRisk FactorsGeneticsmedicineGenetic predispositionVitamin D and neurologyHumansMultiple sclerosiGenetic Predisposition to DiseaseVitamin DMolecular BiologyKlothoEcology Evolution Behavior and SystematicsGeneticsMultiple sclerosisGenetic VariationGeneral Medicinemedicine.diseaseVitamin D DeficiencyFibroblast Growth Factor-23030104 developmental biologychemistrySusceptibility030220 oncology & carcinogenesisDisease ProgressionReceptors CalcitriolVitamin D.FemaleBiochemical genetics
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