Search results for "Genotype"

showing 10 items of 1725 documents

GIbPSs: a toolkit for fast and accurate analyses of genotyping-by-sequencing data without a reference genome.

2015

Genotyping-by-sequencing (GBS) and related methods are increasingly used for studies of non-model organisms from population genetic to phylogenetic scales. We present GIbPSs, a new genotyping toolkit for the analysis of data from various protocols such as RAD, double-digest RAD, GBS, and two-enzyme GBS without a reference genome. GIbPSs can handle paired-end GBS data and is able to assign reads from both strands of a restriction fragment to the same locus. GIbPSs is most suitable for population genetic and phylogeographic analyses. It avoids genotyping errors due to indel variation by identifying and discarding affected loci. GIbPSs creates a genotype database that offers rich functionality…

0301 basic medicineGeneticseducation.field_of_studyGenotyping TechniquesPopulationComputational BiologyLocus (genetics)Computational biologySequence Analysis DNABiology03 medical and health sciencesPhylogeography030104 developmental biologyGenetics PopulationGenotypeGeneticseducationIndelGenotypingGenotyping TechniquesEcology Evolution Behavior and SystematicsPaired-end tagBiotechnologyReference genomeMolecular ecology resources
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Evaluation of the RYR1 gene genetic diversity in the Latvian White pig breed

2016

The ryanodine receptor 1 (RYR1) is a calcium ion channel in the sarcoplasmic reticulum of skeletal muscle. Multiple polymorphic loci have been identified in the RYR1 gene in human and animals and some of them are associated with certain phenotypes. However, there are still few data on the RYR1 genetic variability in pig and only the missense mutation Arg615Cys, associated with the malignant hyperthermia, porcine stress syndrome and meat quality, has been studied in several commercial and local breeds. Aim. To genotype the rs344435545 (C1972T, Arg615Cys), rs196953058 (T8434C, Phe2769Leu) and rs323041392 (G12484A, Asp4119Asn) in the Latvian local pig breed Latvian White and to evaluate the ev…

0301 basic medicineGeneticspigGenetic diversityAnimal breedingbiologyQH301-705.5genetic diversityQH426-470biology.organism_classificationGeneral Biochemistry Genetics and Molecular BiologyBreedpolymorphism03 medical and health sciences030104 developmental biologyGenetic variationGenotypeRYR1GeneticsGenomics Transcriptomics and ProteomicsRestriction fragment length polymorphismAlleleBiology (General)Latvian White pigBiopolymers and Cell
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Genomic signatures of local adaptation to the degree of environmental predictability in rotifers

2018

AbstractEnvironmental fluctuations are ubiquitous and thus essential for the study of adaptation. Despite this, genome evolution in response to environmental fluctuations —and more specifically to the degree of environmental predictability– is still unknown. Saline lakes in the Mediterranean region are remarkably diverse in their ecological conditions, which can lead to divergent local adaptation patterns in the inhabiting aquatic organisms. The facultatively sexual rotifer Brachionus plicatilis shows diverging local adaptation in its life-history traits in relation to estimated environmental predictability in its habitats. Here, we used an integrative approach —combining environmental, phe…

0301 basic medicineGenome evolutionGenotypeAcclimatizationRotiferalcsh:MedicineSingle-nucleotide polymorphismEnvironmentBiologyBalancing selectionPolymorphism Single NucleotideGenomeArticle03 medical and health sciencesAnimalsSelection GeneticPredictabilitylcsh:ScienceEcosystemSelection (genetic algorithm)Local adaptationGenomeMultidisciplinaryMediterranean Regionlcsh:RGenomicsAdaptation Physiological030104 developmental biologySpainEvolutionary biologylcsh:QAdaptationScientific Reports
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High prevalence and moderate diversity of Pseudomonas aeruginosa in the U-bends of high-risk units in hospital

2017

The presence of P. aeruginosa in water supply is clearly identified as a risk factor for P. aeruginosa infection in critical care units, even if routes of transmission are often unclear and remain a matter of debate. We determined here the frequency of U-bends contaminated with P. aeruginosa in high-risk units and described the population structure of this opportunistic pathogen in a non-outbreak situation. Eighty-seven U-bends from sinks of rooms in five wards were sampled 3 times and P. aeruginosa was detected in 121 of the 261 (46.4%) U-bend samples. We genotyped 123 P. aeruginosa isolates with pulsed-field gel electrophoresis and multilocus sequence typing and found 41 pulsotypes distri…

0301 basic medicineGenotype030106 microbiologyPopulation structure030501 epidemiologyBiology[ SDV.MP.BAC ] Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriologymedicine.disease_causeMicrobiology03 medical and health sciencesOpportunistic pathogenDrug Resistance BacterialmedicineWater PollutantsCladeComputingMilieux_MISCELLANEOUSHigh prevalencePseudomonas aeruginosaDrainage SanitaryPublic Health Environmental and Occupational HealthGenetic Variation[ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologieSequence types[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology6. Clean waterHospitalsAnti-Bacterial AgentsIntensive Care UnitsPseudomonas aeruginosaMultilocus sequence typing[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie0305 other medical scienceWater MicrobiologyEnvironmental Monitoring
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First molecular detection of mycobacterium bovis in environmental samples from a French region with endemic bovine tuberculosis

2016

Aims The aim of the study was to determine the prevalence of Mycobacterium bovis (the causative agent of bovine tuberculosis, bTB) in environmental matrices within a French region (Cote d'Or) affected by this zoonotic disease. Methods and Results We report here the development and the use of molecular detection assays based on qPCR (double fluorescent dye labelled probe) to monitor the occurrence of Mycobacterium tuberculosis complex (MTBC) or M. bovis in environmental samples collected in pastures where infected cattle and wildlife had been reported. Three qPCR assays targeting members of the MTBC (IS1561’ and Rv3866 loci) or M. bovis (RD4 locus) were developed or refined from existing ass…

0301 basic medicineGenotype040301 veterinary sciences[SDV]Life Sciences [q-bio]030106 microbiologyIndoor bioaerosolAnimals WildLocus (genetics)Applied Microbiology and BiotechnologyMicrobiology0403 veterinary scienceFeces03 medical and health sciencesGenotypeEnvironmental MicrobiologyMustelidaePrevalenceBovine tuberculosisAnimals[SDV.BV]Life Sciences [q-bio]/Vegetal Biologyquantitative real-time PCRbovine tuberculosisFeces2. Zero hungerMycobacterium bovisbiologyfungi04 agricultural and veterinary sciencesGeneral MedicineContaminationbiology.organism_classificationMycobacterium bovis3. Good healthMycobacterium tuberculosis complex[SDE]Environmental SciencesCattleindirect transmissionFranceTuberculosis BovineenvironmentBiotechnology
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Association of susceptible genotypes to periodontal disease with the clinical outcome and tooth survival after non-surgical periodontal therapy: A sy…

2015

Background The real clinical utility of genetic testing is the prognostic value of genetic factors in the clinical outcome of periodontal treatment and the tooth survival. A meta-analysis was undertaken to estimate the effect of a susceptible genotype to periodontitis on the clinical outcomes of non-surgical periodontal therapy and the tooth survival. Material and Methods A systematic search of MEDLINE-Pubmed, Cochrane Library and Scopus was performed. Additionally, a hand search was done in three journals. No specific language restriction was applied. Two reviewers screened independently titles and abstracts or full text copies. Quality assessment of all the included studies was held. Resu…

0301 basic medicineGenotypeBleeding on probingTooth lossDentistryOdontologíaReviewCochrane LibraryMedical and Health Sciences03 medical and health sciences0302 clinical medicineGenotypeTooth lossmedicineHumansGenetic Predisposition to DiseasePolymorphismPeriodontitisGeneral DentistryPeriodontal DiseasesGenetic testingPeriodontitisOral Medicine and Pathologymedicine.diagnostic_testbusiness.industryClinical outcomePeriodontal therapy030206 dentistryBasic Medicinemedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludMeta-analysisTreatment Outcome030104 developmental biologyOtorhinolaryngologyClinical attachment lossSusceptibilityMeta-analysisUNESCO::CIENCIAS MÉDICASSystematic reviewSurgerymedicine.symptomPeriodontal diseasebusinessTooth
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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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Haplotype reference consortium panel: Practical implications of imputations with large reference panels.

2017

Contains fulltext : 177754.pdf (Publisher’s version ) (Open Access) Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts usin…

0301 basic medicineGenotypeConcordanceGenome-wide association study610 Medicine & healthBiologyPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciencesGene FrequencyGeneticsAssociation studies Imputation 1000 Genomes Project reference Panel Haplotype Reference Consortium Vertical cup-disc ratioHumansExome1000 Genomes Project610 Medicine & healthExomeAllele frequencyGenetics (clinical)Genetic associationGeneticsGenome HumanHaplotypeGenetic Variation030104 developmental biologyHaplotypesImputation (genetics)Genome-Wide Association Study
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Exploring the biodiversity of two groups of Oenococcus oeni isolated from grape musts and wines: Are they equally diverse?

2016

One hundred and four Oenococcus oeni isolates were characterised by the carbohydrate fermentation (CH) profile and DNA fingerprinting. Forty-four isolates came from grape must, and 60 from wines sampled at the end of alcoholic fermentation or during malolactic fermentation. The grape must isolates fermented more CH than the wine isolates. In genotypical terms, no clear boundary between grape must and wine isolates was found. Diversities were deduced by considering the isolates of grape must and of wine separately and jointly. By considering only CH fermentation abilities, the group of grape must isolates gave higher diversity index (DICH) values than those isolated from wine; i.e., these is…

0301 basic medicineGenotypeOtras Ciencias Biológicas030106 microbiologyGrape mustWineMinisatellite RepeatsBiologyEthanol fermentationApplied Microbiology and BiotechnologyMicrobiologyCiencias Biológicas03 medical and health sciencesDiversity indexBotanyMalolactic fermentationCarbohydrate fermentationCluster AnalysisCarbohydrate fermentationVitisFood scienceEcology Evolution Behavior and SystematicsOenococcusOenococcus oeniWineDiversityDNA fingerprintsdigestive oral and skin physiologyfungifood and beveragesBiodiversitybiology.organism_classificationDNA FingerprintingBacterial Typing TechniquesRandom Amplified Polymorphic DNA TechniqueDNA profilingFermentationCarbohydrate MetabolismFermentationOenococcus oenihuman activitiesCIENCIAS NATURALES Y EXACTASSystematic and applied microbiology
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Identification of miRNAs linked with the drought response of tef [Eragrostis tef (Zucc.) Trotter]

2018

Tef [Eragrostis tef (Zucc.) Trotter], a staple food crop in the Horn of Africa and particularly in Ethiopia, has several beneficial agronomical and nutritional properties, including waterlogging and drought tolerance. In this study, we performed microRNA profiling of tef using the Illumina HiSeq 2500 platform, analyzing both shoots and roots of two tef genotypes, one drought-tolerant (Tsedey) and one drought-susceptible (Alba). We obtained more than 10 million filtered reads for each of the 24 sequenced small cDNA libraries. Reads mapping to known miRNAs were more abundant in the root than shoot tissues. Thirteen and 35 miRNAs were significantly modulated in response to drought, in Alba and…

0301 basic medicineGenotypePhysiologyIn silicoDrought tolerancePlant ShootPlant ScienceEragrostisEragrostis tef580 Plants (Botany)Plant RootsmicroRNA (miRNA)03 medical and health sciencesSettore AGR/07 - Genetica AgrariaComplementary DNAGenotypePlant breedingGeneticsDroughtbiologymiRNA targetcDNA libraryfungiTeffood and beveragesMicroRNAPlant RootEragrostiEragrostisbiology.organism_classificationDroughtsMicroRNAs030104 developmental biologyRNA PlantShootAgronomy and Crop SciencePlant ShootsJournal of Plant Physiology
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