Search results for "Information science"

showing 10 items of 3627 documents

Block Sorting-Based Transformations on Words: Beyond the Magic BWT

2018

The Burrows-Wheeler Transform (BWT) is a word transformation introduced in 1994 for Data Compression and later results have contributed to make it a fundamental tool for the design of self-indexing compressed data structures. The Alternating Burrows-Wheeler Transform (ABWT) is a more recent transformation, studied in the context of Combinatorics on Words, that works in a similar way, using an alternating lexicographical order instead of the usual one. In this paper we study a more general class of block sorting-based transformations. The transformations in this new class prove to be interesting combinatorial tools that offer new research perspectives. In particular, we show that all the tra…

0301 basic medicineSettore INF/01 - InformaticaComputer scienceData_CODINGANDINFORMATIONTHEORY0102 computer and information sciencesBlock sortingData structureLexicographical order01 natural sciencesUpper and lower bounds03 medical and health sciencesCombinatorics on words030104 developmental biology010201 computation theory & mathematicsArithmeticCompressed Data Structures Block Sorting Combinatorics on Words AlgorithmsData compression
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Molecular profiling of pancreatic neuroendocrine tumors (pNETS) and the clinical potential

2018

Abstract: Introduction: Pancreatic neuroendocrine tumors (pNETs) represent a small part of pancreatic neoplasms, and the knowledge about their indolent clinical course remains a subject of investigation. They occur sporadically or as part of familial cancer syndromes and are classified by WHO in 3 categories. There is ongoing research to understand their molecular profiling and leading mutations.Areas covered: The aim of this review is to clarify the overall aspects of tumorigenesis, to expose the latest developments in understanding the course of the disease and the possible therapeutic implications of these. The review also discusses functional and non-functional pNETs and associated inhe…

0301 basic medicineSettore MED/06 - Oncologia Medicamedicine.medical_treatmentClinical Decision-MakingAntineoplastic AgentsDiseaseNeuroendocrine tumorsBioinformaticsTargeted therapy03 medical and health sciences0302 clinical medicinePredictive Value of TestsFunctional tumorBiomarkers TumormedicineHumansProfiling (information science)Molecular Targeted Therapyneurondocrine tumorPrecision MedicineTherapeutic strategymolecular pathwayHepatologybusiness.industryGene Expression ProfilingGastroenterologyClinical coursehereditary syndrometargeted therapymedicine.diseaseGene Expression Regulation NeoplasticPancreatic NeoplasmsNeuroendocrine Tumors030104 developmental biology030220 oncology & carcinogenesispancreatic tumorFamilial CancerHuman medicinebusinessSignal TransductionExpert review of gastroenterology & hepatology
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Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.

2018

AbstractFriedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identificatio…

0301 basic medicineStatistics and ProbabilityEpigenomicsSmall RNAData DescriptorAtaxiaMitochondrial diseaseLibrary and Information SciencesBioinformaticsEducation03 medical and health sciences0302 clinical medicinemicroRNAMedicineHumansCirculating MicroRNAPathologicalCause of deathbusiness.industrySequence Analysis RNAHypertrophic cardiomyopathyNeuromuscular diseasemedicine.diseasePhenotypeComputer Science Applications030104 developmental biologyFriedreich AtaxiaNext-generation sequencingmedicine.symptomStatistics Probability and Uncertaintybusiness030217 neurology & neurosurgeryInformation SystemsScientific data
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Gene-based and semantic structure of the Gene Ontology as a complex network

2012

The last decade has seen the advent and consolidation of ontology based tools for the identification and biological interpretation of classes of genes, such as the Gene Ontology. The information accumulated time-by-time and included in the GO is encoded in the definition of terms and in the setting up of semantic relations amongst terms. This approach might be usefully complemented by a bottom-up approach based on the knowledge of relationships amongst genes. To this end, we investigate the Gene Ontology from a complex network perspective. We consider the semantic network of terms naturally associated with the semantic relationships provided by the Gene Ontology consortium and a gene-based …

0301 basic medicineStatistics and ProbabilityFOS: Computer and information sciencesPhysics - Physics and SocietyComplex systemComputer scienceMolecular Networks (q-bio.MN)Complex systemFOS: Physical sciencesNetworkCondensed Matter PhysicPhysics and Society (physics.soc-ph)computer.software_genreQuantitative Biology - Quantitative MethodsStatistics - ApplicationsGeneSemantic network03 medical and health sciencesSemantic similarityQuantitative Biology - Molecular NetworksApplications (stat.AP)GeneQuantitative Methods (q-bio.QM)Community detectionGene ontologybusiness.industryOntologyOntology-based data integrationComplex networkCondensed Matter PhysicsBipartite system030104 developmental biologyBipartite system; Community detection; Complex systems; Genes; Networks; Ontology; Condensed Matter Physics; Statistics and ProbabilityFOS: Biological sciencesOntologyWeighted networkData miningArtificial intelligenceComputingMethodologies_GENERALbusinesscomputerNatural language processing
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L1-Penalized Censored Gaussian Graphical Model

2018

Graphical lasso is one of the most used estimators for inferring genetic networks. Despite its diffusion, there are several fields in applied research where the limits of detection of modern measurement technologies make the use of this estimator theoretically unfounded, even when the assumption of a multivariate Gaussian distribution is satisfied. Typical examples are data generated by polymerase chain reactions and flow cytometer. The combination of censoring and high-dimensionality make inference of the underlying genetic networks from these data very challenging. In this article, we propose an $\ell_1$-penalized Gaussian graphical model for censored data and derive two EM-like algorithm…

0301 basic medicineStatistics and ProbabilityFOS: Computer and information sciencesgraphical lassoComputer scienceGaussianNormal DistributionInferenceMultivariate normal distribution01 natural sciencesMethodology (stat.ME)010104 statistics & probability03 medical and health sciencessymbols.namesakeGraphical LassoExpectation–maximization algorithmHumansComputer SimulationGene Regulatory NetworksGraphical model0101 mathematicsStatistics - MethodologyEstimation theoryReverse Transcriptase Polymerase Chain ReactionEstimatorexpectation-maximization algorithmGeneral MedicineCensoring (statistics)High-dimensional datahigh-dimensional dataGaussian graphical model030104 developmental biologysymbolscensored dataCensored dataExpectation-Maximization algorithmStatistics Probability and UncertaintySettore SECS-S/01 - StatisticaAlgorithmAlgorithms
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Towards Self-explanatory Ontology Visualization with Contextual Verbalization

2016

Ontologies are one of the core foundations of the Semantic Web. To participate in Semantic Web projects, domain experts need to be able to understand the ontologies involved. Visual notations can provide an overview of the ontology and help users to understand the connections among entities. However, the users first need to learn the visual notation before they can interpret it correctly. Controlled natural language representation would be readable right away and might be preferred in case of complex axioms, however, the structure of the ontology would remain less apparent. We propose to combine ontology visualizations with contextual ontology verbalizations of selected ontology (diagram) e…

0301 basic medicineStructure (mathematical logic)Computer sciencebusiness.industry05 social sciences050301 educationRepresentation (arts)Ontology (information science)computer.software_genreNotationlanguage.human_languageDomain (software engineering)03 medical and health sciences030104 developmental biologyControlled natural languagelanguageArtificial intelligencebusiness0503 educationcomputerSemantic WebNatural language processingAxiom
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QuBiLS-MAS, open source multi-platform software for atom- and bond-based topological (2D) and chiral (2.5D) algebraic molecular descriptors computati…

2017

Background In previous reports, Marrero-Ponce et al. proposed algebraic formalisms for characterizing topological (2D) and chiral (2.5D) molecular features through atom- and bond-based ToMoCoMD-CARDD (acronym for Topological Molecular Computational Design-Computer Aided Rational Drug Design) molecular descriptors. These MDs codify molecular information based on the bilinear, quadratic and linear algebraic forms and the graph-theoretical electronic-density and edge-adjacency matrices in order to consider atom- and bond-based relations, respectively. These MDs have been successfully applied in the screening of chemical compounds of different therapeutic applications ranging from antimalarials…

0301 basic medicineTheoretical computer scienceComputer scienceBilinear interpolationLibrary and Information SciencesTopologyLinear01 natural scienceslcsh:ChemistryToMoCoMD-CARDDDouble stochastic03 medical and health sciencesMatrix (mathematics)SoftwareQuadratic equationMolecular descriptorAtom/bond-based molecular descriptorPhysical and Theoretical ChemistryAlgebraic numberSimple stochasticFree and open source softwarelcsh:T58.5-58.64lcsh:Information technologybusiness.industryQSARMutual probability matricesComputer Graphics and Computer-Aided DesignRotation formalisms in three dimensions0104 chemical sciencesComputer Science Applications010404 medicinal & biomolecular chemistry030104 developmental biologylcsh:QD1-999CheminformaticsBilinear and quadratic indicesbusinessNon-stochasticSoftwareQuBiLS-MASJournal of cheminformatics
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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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Biomolecular computers with multiple restriction enzymes

2017

Abstract The development of conventional, silicon-based computers has several limitations, including some related to the Heisenberg uncertainty principle and the von Neumann “bottleneck”. Biomolecular computers based on DNA and proteins are largely free of these disadvantages and, along with quantum computers, are reasonable alternatives to their conventional counterparts in some applications. The idea of a DNA computer proposed by Ehud Shapiro’s group at the Weizmann Institute of Science was developed using one restriction enzyme as hardware and DNA fragments (the transition molecules) as software and input/output signals. This computer represented a two-state two-symbol finite automaton t…

0301 basic medicineTheoretical computer scienceDNA computerlcsh:QH426-4700102 computer and information sciencesBiology01 natural scienceslaw.inventionrestriction enzymesGenomics and Bioinformatics03 medical and health sciencessymbols.namesakeSoftwareDNA computinglawGeneticsNondeterministic finite automatonMolecular BiologyQuantum computerFinite-state machinebusiness.industryConstruct (python library)bioinformaticsDNARestriction enzymelcsh:Genetics030104 developmental biology010201 computation theory & mathematicssymbolsbusinessVon Neumann architectureGenetics and Molecular Biology
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Bacterial antisense RNAs are mainly the product of transcriptional noise

2015

Most of the antisense transcripts in bacteria are the product of transcriptional noise derived from spurious promoters.

0301 basic medicineTranscription GeneticBacterial antisense RNAs030106 microbiologyinformation scienceBiologyGenomeTranscriptome03 medical and health sciencesSpecies SpecificityTranscription (biology)medicineLife Sciencenatural sciencesRNA AntisenseSystems and Synthetic BiologyResearch ArticlesGeneticsBiomoleculesMessenger RNASysteem en Synthetische BiologieMultidisciplinaryRNASciAdv r-articlesPromotersocial sciencesmedicine.diseaseequipment and supplieshealth care quality access and evaluationChloroplastRNA BacterialCardiovascular and Metabolic Diseasesbacterial antisense RNAsRNATranscriptomeTranscriptional noiseResearch ArticleScience Advances
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