Search results for "Sequencing"

showing 10 items of 1087 documents

Halorhabdus rudnickae sp. nov., a halophilic archaeon isolated from a salt mine borehole in Poland

2016

Two halophilic archaea, designated strains WSM-64 and WSM-66, were isolated from a sample taken from a borehole in the currently unexploited Barycz mining area belonging to the >Wieliczka> Salt Mine Company, in Poland. Strains are red pigmented and form non-motile cocci that stain Gram-negative. Strains WSM-64 and WSM-66 showed optimum growth at 40 °C, in 20% NaCl and at pH 6.5-7.5. The strains were facultative anaerobes. The major polar lipids of the two strains were phosphatidylglycerol (PG2), phosphatidylglycerol phosphate methyl ester (PGP-Me) and sulfated diglycosyl diether (S-DGD). Menaquinone MK-8 was the major respiratory quinone. The DNA G+C content of strain WSM-64 was 61.2 mol% b…

0301 basic medicineGeologic Sediments030106 microbiologyBiologyApplied Microbiology and BiotechnologyMicrobiologyGenomeDNA sequencingMicrobiology03 medical and health scienceschemistry.chemical_compoundBotanyEcology Evolution Behavior and SystematicsPhosphatidylglycerolHalobacteriaceaeStrain (chemistry)HaloarchaeaHalorhabdus rudnickae sp. novHalorhabdus16S ribosomal RNAbiology.organism_classificationHalophileBacterial Typing TechniqueschemistryPolandDNAArchaeaSystematic and Applied Microbiology
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Genetic Diversity of O-Antigens in Hafnia alvei and the Development of a Suspension Array for Serotype Detection.

2016

Hafnia alvei is a facultative and rod-shaped gram-negative bacterium that belongs to the Enterobacteriaceae family. Although it has been more than 50 years since the genus was identified, very little is known about variations among Hafnia species. Diversity in O-antigens (O-polysaccharide, OPS) is thought to be a major factor in bacterial adaptation to different hosts and situations and variability in the environment. Antigenic variation is also an important factor in pathogenicity that has been used to define clones within a number of species. The genes that are required to synthesize OPS are always clustered within the bacterial chromosome. A serotyping scheme including 39 O-serotypes has…

0301 basic medicineGlycobiologylcsh:MedicineArtificial Gene Amplification and ExtensionGenomePolymerase Chain ReactionBiochemistryDatabase and Informatics MethodsNucleic AcidsGene clusterlcsh:SciencePhylogenyGeneticsMultidisciplinaryChromosome BiologyPolysaccharides BacterialO AntigensEnzymesMultigene FamilySequence AnalysisResearch ArticleDNA Bacterial030106 microbiologySequence DatabasesBiologyResearch and Analysis MethodsSensitivity and SpecificityChromosomesBacterial genetics03 medical and health sciencesTransferasesSequence Motif AnalysisPolysaccharidesGenetic variationAntigenic variationGeneticsSerotypingMolecular Biology TechniquesSequencing TechniquesOperonsGeneMolecular BiologyGenetic diversityCircular bacterial chromosomelcsh:RGenetic VariationReproducibility of ResultsBiology and Life SciencesProteinsHafnia alveiCell BiologyDNABiosynthetic Pathways030104 developmental biologyBiological DatabasesEnzymologylcsh:QSequence AlignmentGenome BacterialPLoS ONE
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First Report on the Latvian SARS-CoV-2 Isolate Genetic Diversity

2021

Remaining a major healthcare concern with nearly 29 million confirmed cases worldwide at the time of writing, novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has caused more than 920 thousand deaths since its outbreak in China, December 2019. First case of a person testing positive for SARS-CoV-2 infection within the territory of the Republic of Latvia was registered on 2nd of March 2020, 9 days prior to the pandemic declaration by WHO. Since then, more than 277,000 tests were carried out confirming a total of 1,464 cases of coronavirus disease 2019 (COVID-19) in the country as of 12th of September 2020. Rapidly reacting to the spread of the infection, an ongoing sequenci…

0301 basic medicineHCoV-19Coronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)medicine.disease_cause03 medical and health sciences0302 clinical medicinePandemicmedicineChinaOriginal ResearchCoronavirusGenetic diversitylcsh:R5-920SARS-CoV-2LatvianOutbreakCOVID-19General Medicinegenetic diversityVirologyLatvialanguage.human_language030104 developmental biologyGeography2019-nCoVlanguageMedicinenext-generation sequencingSevere acute respiratory syndrome coronaviruslcsh:Medicine (General)030217 neurology & neurosurgeryFrontiers in Medicine
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Genetic characterization of influenza viruses from influenza-related hospital admissions in the St. Petersburg and Valencia sites of the Global Influ…

2016

Abstract Background Continuous surveillance for genetic changes in circulating influenza viruses is needed to guide influenza prevention and control. Objectives To compare intra-seasonal influenza genetic diversity of hemagglutinin in influenza A strains isolated from influenza hospital admissions collected at two distinct sites during the same season. Study design Comparative phylogenetic analysis of full-length hemagglutinin genes from 77 isolated influenza A viruses from the St. Petersburg, Russian Federation and Valencia, Spain sites of the Global Influenza Hospital Surveillance Network (GIHSN) during the 2013/14 season. Results We found significant variability in A(H3N2) and A(H1N1)pdm…

0301 basic medicineHemagglutinin glycoproteinsMalevirusesHemagglutinin Glycoproteins Influenza Virusmedicine.disease_causeGlobal HealthRussia0302 clinical medicineGenomic sequencingInfluenza A Virus H1N1 SubtypeInfluenza A virusH3N2 subtype030212 general & internal medicineCladeChildPhylogenyAged 80 and overPhylogenetic treevirus diseasesMiddle AgedInfectious DiseasesInfluenza A virusChild PreschoolEpidemiological MonitoringRNA ViralFemaleSeasonsAdultAdolescentHemagglutinin (influenza)Genome ViralBiologyH5N1 genetic structure03 medical and health sciencesYoung AdultVirologyInfluenza preventionGenetic variationInfluenza HumanmedicineHumansAgedGenetic diversityInfluenza A Virus H3N2 SubtypeGenetic VariationInfantSequence Analysis DNAVirology030104 developmental biologyH1N1 subtypeSpainbiology.proteinInfluenza virusJournal of Clinical Virology
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Integrative Genome-Scale DNA Methylation Analysis of a Large and Unselected Cohort Reveals 5 Distinct Subtypes of Colorectal Adenocarcinomas

2019

BACKGROUND & AIMS: Colorectal cancer is an epigenetically heterogeneous disease, however, the extent and spectrum of the CpG island methylator phenotype (CIMP) is not clear. METHODS: Genome-scale methylation and transcript expression were measured by DNA Methylation and RNA expression microarray in 216 unselected colorectal cancers, and findings were validated using The Cancer Genome Atlas 450K and RNA sequencing data. Mutations in epigenetic regulators were assessed using CIMP-subtyped Cancer Genome Atlas exomes. RESULTS: CIMP-high cancers dichotomized into CIMP-H1 and CIMP-H2 based on methylation profile. KRAS mutation was associated significantly with CIMP-H2 cancers, but not CIMP-H1 can…

0301 basic medicineHepatologyCpG Island Methylator PhenotypeColorectal cancerGastroenterologyMethylationBiologymedicine.disease_causemedicine.diseasedigestive system diseases3. Good health03 medical and health sciences030104 developmental biology0302 clinical medicineDNA methylationCancer researchmedicinelcsh:Diseases of the digestive system. Gastroenterology030211 gastroenterology & hepatologyKRASEpigeneticslcsh:RC799-869neoplasmsGeneExome sequencingCellular and Molecular Gastroenterology and Hepatology
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An improved genome assembly uncovers prolific tandem repeats in Atlantic cod

2016

AbstractBackground: The first Atlantic cod (Gadus morhua) genome assembly published in 2011 was one of the early genome assemblies exclusively based on high-throughput 454 pyrosequencing. Since then, rapid advances in sequencing technologies have led to a multitude of assemblies generated for complex genomes, although many of these are of a fragmented nature with a significant fraction of bases in gaps. The development of long-read sequencing and improved software now enable the generation of more contiguous genome assemblies.Results: By combining data from Illumina, 454 and the longer PacBio sequencing technologies, as well as integrating the results of multiple assembly programs, we have …

0301 basic medicineHeterozygoteAssembly algorithmsSequence assemblyGenomicsRepetitive DNABiologyGenome03 medical and health sciences0302 clinical medicineAssembly consolidationTandem repeatIndel polymorphismGeneticsAnimalsGadusLong-read sequencing technologyPromoter Regions GeneticMicrosatellitesRepeated sequenceGenePacBioGeneticsHeterozygosityDinucleotide repeatsMolecular Sequence AnnotationGenomicsSequence Analysis DNAbiology.organism_classification030104 developmental biologyGadus morhuaTandem Repeat SequencesEvolutionary biologyPyrosequencingAtlantic cod030217 neurology & neurosurgeryResearch ArticleBiotechnology
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Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria

2018

Significance Many modern European states trace their roots back to a period known as the Migration Period that spans from Late Antiquity to the early Middle Ages. We have conducted the first population-level analysis of people from this era, generating genomic data from 41 graves from archaeological sites in present-day Bavaria in southern Germany mostly dating to around 500 AD. While they are predominantly of northern/central European ancestry, we also find significant evidence for a nonlocal genetic provenance that is highly enriched among resident Early Medieval women, demonstrating artificial skull deformation. We infer that the most likely origin of the majority of these women was sout…

0301 basic medicineHuman MigrationGenetic genealogyPopulationPopulation geneticsMigration PeriodGenetic analysisWhite PeoplePrehistory03 medical and health sciences0302 clinical medicineGermanyHumansEarly MedievalEast AsiaDNA Ancienteducationeducation.field_of_studyMultidisciplinaryPopulation BiologyWhole Genome SequencingGenome HumanGenetic heterogeneitySkullpopulation geneticsGenetic VariationGenomicsBiological Sciencesdemographic inferenceHistory MedievalpaleogenomicsGenetics PopulationPhenotype030104 developmental biologyGeographyArchaeologyHaplotypesEvolutionary biologyGenetic structureFemale030217 neurology & neurosurgeryProceedings of the National Academy of Sciences
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2019

By using all atom molecular dynamics simulations, we studied the behavior of human DNA telomere sequences in guanine quadruplex (G4) conformation and in the presence of oxidative lesions, namely abasic sites. In particular, we evidenced that while removing one guanine base induces a significant alteration and destabilization of the involved leaflet, human telomere oligomers tend, in most cases, to maintain at least a partial quadruplex structure, eventually by replacing the empty site with undamaged guanines of different leaflets. This study shows that (i) the disruption of the quadruplex leaflets induces the release of at least one of the potassium cations embedded in the quadruplex channe…

0301 basic medicineHuman dnaPhysiologyGuanineClinical BiochemistryCell BiologyOxidative phosphorylation010402 general chemistryElectrostatics01 natural sciencesBiochemistryDNA sequencing0104 chemical sciencesTelomere03 medical and health sciencesMolecular dynamicschemistry.chemical_compound030104 developmental biologychemistryBiophysicsheterocyclic compoundsGuanine-QuadruplexesMolecular BiologyAntioxidants
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

2018

International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 fami…

0301 basic medicineHypertrichosisMalePediatrics[SDV]Life Sciences [q-bio]MESH: Magnetic Resonance ImagingPathognomonicMESH: ChildIntellectual disabilityMESH: SyndromeChildMESH: High-Throughput Nucleotide SequencingGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSbiologyWiedemann-Steiner syndromeHigh-Throughput Nucleotide SequencingSyndromeKMT2AMESH: Amino Acid SubstitutionMagnetic Resonance Imaginghypertrichosis3. Good healthhairinessKMT2APhenotypeWiedemann-Steiner syndromeChild Preschoolcardiovascular systemFemaleDisease SusceptibilityFrancemedicine.symptomMESH: Tomography X-Ray ComputedMyeloid-Lymphoid Leukemia Proteinmedicine.medical_specialtyMESH: MutationAdolescentMESH: Disease SusceptibilityMESH: PhenotypeShort statureMESH: Intellectual Disability03 medical and health sciencesHypertrichosis cubitiIntellectual DisabilityGeneticsmedicineHumanshistone methylationMESH: Adolescent[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: Humansbusiness.industryMESH: Child PreschoolMESH: Histone-Lysine N-MethyltransferaseHistone-Lysine N-Methyltransferasemedicine.diseaseMESH: MaleMESH: France030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAmino Acid SubstitutionMESH: Myeloid-Lymphoid Leukemia ProteinMutationbiology.proteinbusinessTomography X-Ray ComputedMESH: FemaleClinical genetics
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FT-IR spectroscopy : A powerful tool for studying the inter- and intraspecific biodiversity of cultivable non-Saccharomyces yeasts isolated from grap…

2016

International audience; The efficiency of the FT-IR technique for studying the inter- and intra biodiversity of cultivable non-Saccharomyces yeasts (NS) present in different must samples was examined. In first, the capacity of the technique FF-IR to study the global diversity of a given sample was compared to the pyrosequencing method, used as a reference technique. Seven different genera (Aureobasidium, Candida, Cryptococcus, Hanseniaspora, Issatchenkia, Metschnikowia and Pichia) were identified by FT-IR and also by pyrosequencing. Thirty-eight other genera were identified by pyrosequencing, but together they represented less than 6% of the average total population of 6 musts. Among the sp…

0301 basic medicineIdentification[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionBiodiversityWineHanseniasporaSaccharomycesMicrobial ecology[ SDV.MP ] Life Sciences [q-bio]/Microbiology and ParasitologyYeastsSpectroscopy Fourier Transform InfraredVitisDNA FungalMycological Typing TechniquesPhylogenyCandidaIntragenomic variationbiologySp-nov.Pyrolysis mass-spectrometryPyrosequencingBiodiversityCandida zemplininaYeast in winemaking[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyFT-IR spectroscopyMetschnikowiaAlcoholic fermentationMicrobiology (medical)food.ingredientWine yeast030106 microbiologyMicrobiologyIntraspecific competitionCandida-zemplininaSaccharomyces03 medical and health sciencesfoodBotanyRNA Ribosomal 18SMolecular BiologyBase SequenceComputational BiologySequence Analysis DNAbiology.organism_classificationGreen lacewingsStrain typingPyrosequencingTransform-infrared-spectroscopy[SDV.AEN]Life Sciences [q-bio]/Food and NutritionBotrytis-affected wine
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