Search results for "Sequencing"

showing 10 items of 1087 documents

Genomic investigation of a legionellosis outbreak in a persistently colonized hotel

2016

Objectives: A long-lasting legionellosis outbreak was reported between November 2011 and July 2012 in a hotel in Calpe (Spain) affecting 44 patients including six deaths. Intensive epidemiological and microbiological investigations were performed in order to detect the reservoirs. Methods: Clinical and environmental samples were tested for the presence and genetic characterization of Legionella pneumophila. Six of the isolates were subjected to whole-genome sequencing. Results: Sequencing of 14 clinical and 260 environmental samples revealed sequence type (ST) 23 as the main responsible strain for the infections. This ST was found in the spa pool, from where it spread to other hotel public …

0301 basic medicineMicrobiology (medical)medicine.medical_specialtyMixed infectionsSequencing datacomplete genomelcsh:QR1-502MicrobiologiaBiologyLegionella pneumophilaMicrobiologylcsh:MicrobiologyMicrobiology03 medical and health sciencesEpidemiologymedicineColonizationTypingOriginal ResearchDirect sequencingtypingOutbreakLegionnaire's disease (LD)biology.organism_classificationmedicine.diseaseSalut públicaoutbreak investigation030104 developmental biologyoutbreaksLegionel·losiLegionnaires' diseaseLegionnaires' Disease
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The BioFireFilmArray enables point of care diagnostic in neonatal parechovirus meningitis.

2017

Sir,We read with great interest a report in the present journal on the application of broad-range PCR combined with DNA sequencing for detection of bacteria in cerebrospinal fluid (CSF) [1]. This m...

0301 basic medicineMicrobiology (medical)medicine.medical_specialtyPoint-of-Care Systems030106 microbiologyMEDLINEParechovirusDNA sequencingInfant Newborn Diseases03 medical and health sciencesCerebrospinal fluidMedicineHumansMeningitisIntensive care medicinePicornaviridae InfectionsPoint of carePicornaviridae InfectionsGeneral Immunology and Microbiologybiologybusiness.industryInfant NewbornGeneral Medicinemedicine.diseasebiology.organism_classificationhumanitiesInfectious DiseasesParechovirusbusinessMeningitisInfectious diseases (London, England)
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Identification of virulence factors and antibiotic resistance markers using bacterial genomics.

2016

International audience; In recent years, the number of multidrug-resistant bacteria has increased rapidly and several epidemics were signaled in different regions of the world. Faced with this situation that presents a major global public health concern, the development and the use of new and rapid technologies is more than urgent. The use of the next-generation sequencing platforms by microbiologists and infectious disease specialists has allowed great progress in the medical field. Here, we review the usefulness of whole-genome sequencing for the detection of virulence and antibiotic resistance associated genes.

0301 basic medicineMicrobiology (medical)medicine.medical_specialtyVirulence Factors[SDV]Life Sciences [q-bio]030106 microbiologyVirulenceComputational biologyBiologyMicrobiology03 medical and health sciencesAntibiotic resistanceDrug Resistance Multiple BacterialmedicineHumansWhole genome sequencingBacteriaVirulence[ SDV ] Life Sciences [q-bio]business.industryBacterial genomicsPublic healthHigh-Throughput Nucleotide SequencingGenomicsbiology.organism_classification3. Good healthBiotechnology[SDV] Life Sciences [q-bio]Infectious disease (medical specialty)Spectrometry Mass Matrix-Assisted Laser Desorption-IonizationbusinessGenome BacterialBacteria
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Comprehensive identification of Vibrio vulnificus genes required for growth in human serum.

2018

ABSTRACT Vibrio vulnificus can be a highly invasive pathogen capable of spreading from an infection site to the bloodstream, causing sepsis and death. To survive and proliferate in blood, the pathogen requires mechanisms to overcome the innate immune defenses and metabolic limitations of this host niche. We created a high-density transposon mutant library in YJ016, a strain representative of the most virulent V. vulnificus lineage (or phylogroup) and used transposon insertion sequencing (TIS) screens to identify loci that enable the pathogen to survive and proliferate in human serum. Initially, genes underrepresented for insertions were used to estimate the V. vulnificus essential gene set;…

0301 basic medicineMicrobiology (medical)septicaemiatransposon insertion sequencing (TIS)capsuleImmunologyVirulenceVibrio vulnificusMicrobiologylcsh:Infectious and parasitic diseasesMicrobiology03 medical and health sciencesMiceBacterial ProteinsAnimalsHumanslcsh:RC109-216GenePathogenVibrio vulnificusMice Inbred BALB CInnate immune systembiologyType II secretion systemVirulencebiology.organism_classificationVibrio3. Good health030104 developmental biologyInfectious DiseasesBloodEssential geneVibrio InfectionsDNA Transposable ElementsParasitologyFemaleresistance to human complementResearch ArticleVirulence
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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

2018

Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in the mitochondrial DNA (mtDNA) or in any of the 1,500 nuclear genes with a mitochondrial function. We have performed a two-step next-generation sequencing approach in a cohort of 117 patients, mostly children, in whom a mitochondrial disease-cause could likely or possibly explain the phe…

0301 basic medicineMitochondrial DNANuclear genelcsh:QH426-470DISORDERSMitochondrial diseaseBiologyMOLECULAR DIAGNOSISMtDNA sequencingDNA sequencingDISEASEDiagnostic yield03 medical and health sciencesmedicineGeneticsDNA DELETIONSGenetics(clinical)whole-exome sequencingTRANSFER-RNA-SYNTHETASELACTIC-ACIDOSISGeneGenetics (clinical)Exome sequencingOriginal ResearchGeneticsmtDNA sequencingGenetic heterogeneityMUTATIONSASSEMBLY FACTORSmedicine.diseasePhenotypeMitochondrial diseaselcsh:Geneticsmitochondrial disease030104 developmental biologyHUMAN COMPLEX-IWhole-exome sequencingdiagnostic yieldNext-generation sequencingMolecular Medicinenext-generation sequencingLEIGH-SYNDROMEFrontiers in Genetics
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Critical amino acids for the insecticidal activity of Vip3Af from Bacillus thuringiensis: Inference on structural aspects

2018

AbstractVip3 vegetative insecticidal proteins from Bacillus thuringiensis are an important tool for crop protection against caterpillar pests in IPM strategies. While there is wide consensus on their general mode of action, the details of their mode of action are not completely elucidated and their structure remains unknown. In this work the alanine scanning technique was performed on 558 out of the total of 788 amino acids of the Vip3Af1 protein. From the 558 residue substitutions, 19 impaired protein expression and other 19 substitutions severely compromised the insecticidal activity against Spodoptera frugiperda. The latter 19 substitutions mainly clustered in two regions of the protein …

0301 basic medicineModels MolecularAmino Acid MotifsBacillus thuringiensislcsh:MedicineSpodopteraSpodopteraArticle03 medical and health sciencesProtein structureProtein sequencingBacterial ProteinsBacillus thuringiensisAnimalsMode of actionlcsh:Sciencechemistry.chemical_classificationMultidisciplinaryAlaninebiologyProtein Stabilitylcsh:RAlanine scanningbiology.organism_classificationProtein tertiary structureAmino acidProtein Structure TertiaryMolecular Docking Simulation030104 developmental biologychemistryBiochemistryAmino Acid Substitutionlcsh:QScientific Reports
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Extracellular non-coding RNA signatures of the metacestode stage of Echinococcus multilocularis

2020

Extracellular RNAs (ex-RNAs) are secreted by cells through different means that may involve association with proteins, lipoproteins or extracellular vesicles (EV). In the context of parasitism, ex-RNAs represent new and exciting communication intermediaries with promising potential as novel biomarkers. In the last years, it was shown that helminth parasites secrete ex-RNAs, however, most work mainly focused on RNA secretion mediated by EV. Ex-RNA study is of special interest in those helminth infections that still lack biomarkers for early and/or follow-up diagnosis, such as echinococcosis, a neglected zoonotic disease caused by cestodes of the genus Echinococcus. In this work, we have char…

0301 basic medicineMolecular biologyPhysiologyRC955-962FlatwormsBiochemistry//purl.org/becyt/ford/1 [https]MiceMedical ConditionsSequencing techniques0302 clinical medicineArctic medicine. Tropical medicineMedicine and Health SciencesNanotechnologybiologyHigh-Throughput Nucleotide SequencingEukaryotaRNA sequencingNon-coding RNACell biologyNucleic acidsInfectious DiseasesHelminth InfectionsEngineering and TechnologyPublic aspects of medicineRA1-1270Transfer RNAResearch ArticleNeglected Tropical Diseases030231 tropical medicinemultilocularisContext (language use)Real-Time Polymerase Chain ReactionEchinococcus multilocularisHost-Parasite InteractionsExtracellular Vesicles03 medical and health sciencesEchinococcosisHelminthsGeneticsParasitic DiseasesExtracellularAnimalsHumansSecretion//purl.org/becyt/ford/1.6 [https]Non-coding RNASecretionNatural antisense transcriptsBiology and life sciencesSequence Analysis RNAOrganismsPublic Health Environmental and Occupational HealthRNATropical Diseasesbiology.organism_classificationInvertebratesGene regulationEchinococcusResearch and analysis methodsMicroRNAsMetacestodeMolecular biology techniques030104 developmental biologyEchinococcusCulture Media ConditionedNanoparticlesRNAEchinococcus multilocularisGene expressionPhysiological ProcessesZoologyBiomarkersPLOS Neglected Tropical Diseases
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Different rates of spontaneous mutation of chloroplastic and nuclear viroids as determined by high-fidelity ultra-deep sequencing

2017

[EN] Mutation rates vary by orders of magnitude across biological systems, being higher for simpler genomes. The simplest known genomes correspond to viroids, subviral plant replicons constituted by circular non-coding RNAs of few hundred bases. Previous work has revealed an extremely high mutation rate for chrysanthemum chlorotic mottle viroid, a chloroplastreplicating viroid. However, whether this is a general feature of viroids remains unclear. Here, we have used high-fidelity ultra-deep sequencing to determine the mutation rate in a common host (eggplant) of two viroids, each representative of one family: the chloroplastic eggplant latent viroid (ELVd, Avsunviroidae) and the nuclear pot…

0301 basic medicineMutation rateChloroplastsViroidvirusesPospiviroidaeArtificial Gene Amplification and ExtensionPlant ScienceSelf-CleavageVirus ReplicationBiochemistryPolymerase Chain ReactionGenomeDatabase and Informatics MethodsSequencing techniquesRibozymeNucleic AcidsRibozymesBiology (General)GeneticsHigh-Throughput Nucleotide Sequencingfood and beveragesRNA sequencingViroidsEnzymesAvsunviroidaeDeletion MutationVirusesPhysical SciencesRNA ViralIn-VivoSequence AnalysisResearch ArticleSubstitution MutationHammerhead RibozymesQH301-705.5Materials by StructureBioinformaticsEvolutionMaterials ScienceImmunologyPlant PathogensGenerationReplicationBiologyMicrobiology03 medical and health sciencesSequence Motif AnalysisVirologyGeneticsSolanum melongenaRNA-PolymeraseMolecular BiologyPotato spindle tuber viroidPlant DiseasesMatter030102 biochemistry & molecular biologyPoint mutationOrganismsBiology and Life SciencesProteinsRNAReverse Transcriptase-Polymerase Chain ReactionRC581-607Plant Pathologybiology.organism_classificationVirologyResearch and analysis methodsMolecular biology techniques030104 developmental biologyMutagenesisOligomersMutationEnzymologyRNAMotifParasitologyImmunologic diseases. AllergyPLOS Pathogens
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Human norovirus hyper-mutation revealed by ultra-deep sequencing

2016

Human noroviruses (NoVs) are a major cause of gastroenteritis worldwide. It is thought that, similar to other RNA viruses, high mutation rates allow NoVs to evolve fast and to undergo rapid immune escape at the population level. However, the rate and spectrum of spontaneous mutations of human NoVs have not been quantified previously. Here, we analyzed the intra-patient diversity of the NoV capsid by carrying out RT-PCR and ultra-deep sequencing with 100,000-fold coverage of 16 stool samples from symptomatic patients. This revealed the presence of low-frequency sequences carrying large numbers of U-to-C or A-to-G base transitions, suggesting a role for hyper-mutation in NoV diversity. To mor…

0301 basic medicineMutation rateVirologiaGene ExpressionVirus Replicationmedicine.disease_causeFecesMutation RateHuman genetics[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesCloning MolecularComputingMilieux_MISCELLANEOUSCaliciviridae InfectionsGeneticsMutation[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseasesGenètica humanaHigh-Throughput Nucleotide SequencingGastroenteritisInfectious Diseases[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/VirologyRNA ViralHyper-mutationMicrobiology (medical)RNA virus[SDE.MCG]Environmental Sciences/Global ChangesContext (language use)BiologyTransfectionMicrobiologyArticleDNA sequencingViral Proteins03 medical and health sciences[SDV.EE.ECO]Life Sciences [q-bio]/Ecology environment/EcosystemsVirologyGeneticsmedicineHumansMolecular BiologyGeneEcology Evolution Behavior and Systematics[SDV.EE.SANT]Life Sciences [q-bio]/Ecology environment/HealthBase SequenceNorovirusRNA virusbiology.organism_classificationVirology[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyHEK293 Cells030104 developmental biologyViral replicationNext-generation sequencingNorovirus[SDE.BE]Environmental Sciences/Biodiversity and Ecology
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High Fidelity Deep Sequencing Reveals No Effect of ATM, ATR, and DNA-PK Cellular DNA Damage Response Pathways on Adenovirus Mutation Rate

2019

This article belongs to the Section Animal Viruses.

0301 basic medicineMutation ratemutation rateDNA RepairDNA damageMutation rateviruseslcsh:QR1-502Eukaryotic DNA replicationAtaxia Telangiectasia Mutated ProteinsDNA-Activated Protein KinaseHuman Adenovirus Type 5BiologyDNA damage responsemedicine.disease_causelcsh:MicrobiologyArticleDeep sequencingCell Line03 medical and health scienceschemistry.chemical_compoundVirologymedicineHumansexperimental evolutionPolymeraseMutation030102 biochemistry & molecular biologyAdenoviruses HumanHigh-Throughput Nucleotide SequencingDNA virus3. Good healthCell biologyHuman adenovirus type 5body regions030104 developmental biologyInfectious DiseasesExperimental evolutionchemistrybiology.proteinHuman Adenovirus Type 5.DNADNA DamageSignal TransductionViruses
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