Search results for "Nucleotide Sequencing"

showing 10 items of 226 documents

A Comparison of Techniques to Evaluate the Effectiveness of Genome Editing

2018

Genome editing using engineered nucleases (meganucleases, zinc finger nucleases, transcription activator-like effector nucleases) has created many recent breakthroughs. Prescreening for efficiency and specificity is a critical step prior to using any newly designed genome editing tool for experimental purposes. The current standard screening methods of evaluation are based on DNA sequencing or use mismatch-sensitive endonucleases. They can be time-consuming and costly or lack reproducibility. Here, we review and critically compare standard techniques with those more recently developed in terms of reliability, time, cost, and ease of use.

0301 basic medicineDNA End-Joining Repair[SDV.BIO]Life Sciences [q-bio]/BiotechnologyBioengineeringComputational biologyBiologyDNA sequencing03 medical and health sciencesGenome editingScreening methodAnimalsHumansDNA Breaks Double-StrandedHomologous RecombinationComputingMilieux_MISCELLANEOUSGeneticsGene EditingHigh-Throughput Nucleotide SequencingPlantsEndonucleasesZinc finger nuclease030104 developmental biologyCRISPR-Cas SystemsGenetic EngineeringBiotechnologyRNA Guide Kinetoplastida
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Composition and geographic variation of the bacterial microbiota associated with the coelomic fluid of the sea urchin Paracentrotus lividus

2020

AbstractIn the present work, culture-based and culture-independent investigations were performed to determine the microbiota structure of the coelomic fluid of Mediterranean sea urchin Paracentrotus lividus individuals collected from two distinct geographical sites neighboring a high-density population bay and a nature reserve, respectively. Next Generation Sequencing analysis of 16S rRNA gene (rDNA) showed that members of the Proteobacteria, Bacteroidetes and Fusobacteria phyla, which have been previously reported to be commonly retrieved from marine invertebrates, dominate the overall population of microorganisms colonizing this liquid tissue, with minority bacterial genera exhibiting rem…

0301 basic medicineDNA BacterialScience030106 microbiologyPopulationZoologySettore BIO/11 - Biologia MolecolareMicrobial communitiesSettore BIO/19 - Microbiologia GeneraleDNA RibosomalMicrobiologyParacentrotus lividusArticlemicrobiota sea urchin coelomic fluidsea urchin03 medical and health sciencesbiology.animalRNA Ribosomal 16SmicrobiotaAnimalseducationSea urchinPhylogenyeducation.field_of_studyBacteriological TechniquesMultidisciplinarybiologyBacteriaQRBacteroidetesHigh-Throughput Nucleotide SequencingFusobacteriaMarine invertebratesSequence Analysis DNAbiology.organism_classificationcoelomic fuid030104 developmental biologyEchinodermParacentrotus lividusParacentrotusMedicineProteobacteria
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Directional high-throughput sequencing of RNAs without gene-specific primers.

2018

Ribosomal RNA analysis is a useful tool for characterization of microbial communities. However, the lack of broad-range primers has hampered the simultaneous analysis of eukaryotic and prokaryotic members by amplicon sequencing. We present a complete workflow for directional, primer-independent sequencing of size-selected small subunit ribosomal RNA fragments. The library preparation protocol includes gel extraction of the target RNA, ligation of an RNA oligo to the 5′-end of the target, and cDNA synthesis with a tailed random-hexamer primer and further barcoding. The sequencing results of a phytoplankton mock community showed a highly similar profile to the biomass indicators. This method…

0301 basic medicineDNA Complementaryprimer biasComputational biologyBiologylevätGeneral Biochemistry Genetics and Molecular BiologyDNA sequencingWorkflow03 medical and health sciencesribosomitligationGeneDNA PrimersGene Library030102 biochemistry & molecular biologyplanktongeenitekniikkaHigh-Throughput Nucleotide SequencingRibosomal RNAmikrolevätrandom priming030104 developmental biologymikrobistoRNA RibosomalSpecific primersPhytoplanktonphytoplanktonRNAnext-generation sequencingribosomal RNABiotechnologyBioTechniques
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Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.

2021

doi: 10.1053/j.gastro.2021.04.042 Background & Aims Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disorder associated with an elevated risk of colorectal cancer (CRC). IBD-associated CRC (IBD-CRC) may represent a distinct pathway of tumorigenesis compared to sporadic CRC (sCRC). Our aim was to comprehensively characterize IBD-associated tumorigenesis integrating multiple high-throughput approaches, and to compare the results with in-house data sets from sCRCs. Methods Whole-genome sequencing, single nucleotide polymorphism arrays, RNA sequencing, genome-wide methylation analysis, and immunohistochemistry were performed using fresh-frozen and formalin-fixed tissue sam…

0301 basic medicineEpigenomicsMaleColorectal cancerDNA Mutational AnalysisPHENOTYPEmedicine.disease_causeEpigenesis GeneticPATHWAY0302 clinical medicineMUTATIONAL PROCESSESDRIVERSTumor MicroenvironmentFinlandOligonucleotide Array Sequence AnalysisAged 80 and overDNA methylationMETHYLATIONGastroenterologyWnt signaling pathwaytulehdukselliset suolistosairaudetHigh-Throughput Nucleotide SequencingMiddle AgedDNA-metylaatio3. Good healthCell Transformation NeoplasticepigenetiikkaDNA methylationCONSENSUS MOLECULAR SUBTYPES030211 gastroenterology & hepatologyFemaleconsensus molecular subtypeKRASgeneettiset tekijätAdultEpithelial-Mesenchymal TransitionINTESTINAL INFLAMMATIONConsensus Molecular Subtype3122 Cancersepithelial-mesenchymal transitioncolorectal cancersuolistosyövätBiology3121 Internal medicinePolymorphism Single Nucleotide03 medical and health sciencesinflammatory bowel diseaseCOLONAXIN2medicineBiomarkers TumorHumansEpithelial–mesenchymal transitionEpigeneticsneoplasmsSIGNATURESAgedNeoplasm StagingColorectal CancerHepatologyWhole Genome SequencingSequence Analysis RNAGene Expression ProfilingInflammatory Bowel DiseaseDNA Methylationmedicine.diseaseInflammatory Bowel DiseasesEVOLUTIONdigestive system diseases030104 developmental biologyMutationCancer research3111 BiomedicineColitis-Associated NeoplasmsNeoplasm GradingCarcinogenesisTranscriptomeGastroenterology
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Maternal DNA lineages at the gate of Europe in the 10th century AD

2018

Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We suc…

0301 basic medicineEuropean PeopleremainsHeredityPopulation geneticslcsh:Medicinepopulation030105 genetics & heredityBiochemistryHaplogroupGeographical Locationscontaminationmitochondrial-dnaEthnicitieslcsh:SciencePhylogenymtDNA control regionPrincipal Component Analysiseducation.field_of_studyMultidisciplinaryGeographyHigh-Throughput Nucleotide SequencingPaleogeneticscontrol regionMitochondrial DNAEuropeNucleic acidsGenetic MappingPhylogeographyGeographyArchaeologyBiogeographyRomanian PeopleGenetic structurehistoryResearch ArticleMitochondrial DNAancient DNA mitochondrial DNA population genetics Romania Capidava medieval necropolisForms of DNAPopulationNear-EasternDNA MitochondrialBone and BonesWhite Peoplediversity03 medical and health sciencesgenetic affinitiesGeneticsHumanseducationEvolutionary BiologyBiology and life sciencesPopulation BiologyRomaniaEcology and Environmental Scienceslcsh:RPaleontologySequence Analysis DNADNAsequenceHistory MedievalPhylogeographyGenetics Population030104 developmental biologyHaplotypesEvolutionary biologyPeople and PlacesEarth SciencesHaplogroupsPopulation Groupingslcsh:QPaleogeneticsPopulation Genetics
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Phylogenomics of Mycobacterium africanum reveals a new lineage and a complex evolutionary history.

2021

Coscolla et al.

0301 basic medicineEvolutionmycobacteriaLineage (evolution)030106 microbiologyPopulation610 Medicine & healthSystems Microbiology: Large-scale comparative genomicsGenomediversityMycobacterium tuberculosisEvolution Molecular03 medical and health sciences360 Social problems & social servicesPhylogenomicsevolutionDrug Resistance BacterialHumansTuberculosiseducationgenomePhylogeny030304 developmental biology0303 health scienceseducation.field_of_studyGenetic diversityDiversityGenomeMycobacterium africanumbiologyWhole Genome Sequencing030306 microbiologyMycobacteriaHigh-Throughput Nucleotide SequencingGeneral MedicineMycobacterium tuberculosisAfrica Easternbiology.organism_classification3. Good healthPhylogeographyAfrica WesternPhylogeography030104 developmental biologyMycobacterium tuberculosis complexEvolutionary biologyMycobacterium africanumGenome BacterialResearch Article
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Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus

2016

Background: ChIP-nexus, an extension of the ChIP-exo protocol, can be used to map the borders of protein-bound DNA sequences at nucleotide resolution, requires less input DNA and enables selective PCR duplicate removal using random barcodes. However, the use of random barcodes requires additional preprocessing of the mapping data, which complicates the computational analysis. To date, only a very limited number of software packages are available for the analysis of ChIP-exo data, which have not yet been systematically tested and compared on ChIP-nexus data. Results: Here, we present a comprehensive software package for ChIP-nexus data that exploits the random barcodes for selective removal …

0301 basic medicineFOS: Computer and information sciencesDuplication ratesChromatin ImmunoprecipitationBioinformaticsPipeline (computing)610Biologycomputer.software_genre600 Technik Medizin angewandte Wissenschaften::610 Medizin und Gesundheit03 medical and health sciencesSoftwareChIP-nexusGeneticsPreprocessorNucleotide MotifsLibrary complexityChIP-exoGeneticsProtocol (science)Binding Sitesbusiness.industryfungiComputational BiologyHigh-Throughput Nucleotide SequencingReproducibility of ResultsChipChromatin immunoprecipitationData mappingDNA-Binding ProteinsAlgorithm030104 developmental biologyChIP-exoData miningbusinessPeak callingcomputerAlgorithmsSoftwareProtein BindingTranscription FactorsResearch ArticleBiotechnologyBMC Genomics
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Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions.

2020

Genetic diseases are driven by aberrations of the human genome. Identification of such aberrations including structural variations (SVs) is key to our understanding. Conventional short-reads whole genome sequencing (cWGS) can identify SVs to base-pair resolution, but utilizes only short-range information and suffers from high false discovery rate (FDR). Linked-reads sequencing (10XWGS) utilizes long-range information by linkage of short-reads originating from the same large DNA molecule. This can mitigate alignment-based artefacts especially in repetitive regions and should enable better prediction of SVs. However, an unbiased evaluation of this technology is not available. In this study, w…

0301 basic medicineFalse discovery rateComputer scienceArtificial Gene Amplification and ExtensionPolymerase Chain ReactionDatabase and Informatics MethodsSequencing techniques0302 clinical medicineBreast TumorsBasic Cancer ResearchMedicine and Health SciencesDNA sequencingBiology (General)EcologyHigh-Throughput Nucleotide SequencingGenomicsDNA Neoplasm3. Good healthIdentification (information)OncologyComputational Theory and MathematicsModeling and SimulationMCF-7 CellsFemaleSequence AnalysisResearch ArticleBioinformaticsQH301-705.5Breast NeoplasmsGenomicsComputational biologyResearch and Analysis MethodsHuman Genomics03 medical and health sciencesCellular and Molecular NeuroscienceCancer GenomicsGenomic MedicineBreast CancerGeneticsDNA Barcoding TaxonomicHumansMolecular Biology TechniquesMolecular BiologyEcology Evolution Behavior and SystematicsWhole genome sequencingLinkage (software)Whole Genome SequencingGenome HumanDideoxy DNA sequencingGenetic Diseases InbornCancers and NeoplasmsBiology and Life SciencesComputational BiologyStatistical modelSequence Analysis DNARepetitive RegionsLogistic Models030104 developmental biologyGenomic Structural VariationHuman genomeSequence Alignment030217 neurology & neurosurgeryPLoS Computational Biology
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Feasibility of sample size calculation for RNA-seq studies

2017

Sample size calculation is a crucial step in study design but is not yet fully established for RNA sequencing (RNA-seq) analyses. To evaluate feasibility and provide guidance, we evaluated RNA-seq sample size tools identified from a systematic search. The focus was on whether real pilot data would be needed for reliable results and on identifying tools that would perform well in scenarios with different levels of biological heterogeneity and fold changes (FCs) between conditions. We used simulations based on real data for tool evaluation. In all settings, the six evaluated tools provided widely different answers, which were strongly affected by FC. Although all tools failed for small FCs, s…

0301 basic medicineFold (higher-order function)Sequence Analysis RNAComputer scienceHigh-Throughput Nucleotide SequencingRNA-Seqcomputer.software_genre03 medical and health sciences030104 developmental biology0302 clinical medicineResearch DesignSample size determinationSample SizeFeasibility StudiesHumansData miningMolecular BiologycomputerSoftware030217 neurology & neurosurgeryInformation SystemsSystematic searchBriefings in Bioinformatics
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Generation of a novel next-generation sequencing-based method for the isolation of new human papillomavirus types

2018

Abstract With the advent of new molecular tools, the discovery of new papillomaviruses (PVs) has accelerated during the past decade, enabling the expansion of knowledge about the viral populations that inhabit the human body. Human PVs (HPVs) are etiologically linked to benign or malignant lesions of the skin and mucosa. The detection of HPV types can vary widely, depending mainly on the methodology and the quality of the biological sample. Next-generation sequencing is one of the most powerful tools, enabling the discovery of novel viruses in a wide range of biological material. Here, we report a novel protocol for the detection of known and unknown HPV types in human skin and oral gargle …

0301 basic medicineGenotypeComputational biologyBiologyOral cavityPolymerase Chain ReactionArticleDNA sequencinglaw.inventionCohort Studies03 medical and health scienceslawVirologyHumansProspective StudiesPapillomaviridaePapillomaviridaePolymerase chain reactionDNA PrimersSkinHuman papillomavirus typesMouthHpv typesPapillomavirus InfectionsHigh-Throughput Nucleotide SequencingSequence Analysis DNAIsolation (microbiology)biology.organism_classificationBiological materials030104 developmental biologyDNA ViralVirology
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