Search results for "ePRO"

showing 10 items of 6140 documents

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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Gating Harmonization Guidelines for Intracellular Cytokine Staining Validated in Second International Multiconsortia Proficiency Panel Conducted by C…

2020

Results from the first gating proficiency panel of intracellular cytokine staining (ICS) highlighted the value of using a consensus gating approach to reduce the variability across laboratories in reported %CD8+ or %CD4+ cytokine-positive cells. Based on the data analysis from the first proficiency panel, harmonization guidelines for a consensus gating protocol were proposed. To validate the recommendations from the first panel and to examine factors that were not included in the first panel, a second ICS gating proficiency panel was organized. All participants analyzed the same set of Flow Cytometry Standard (FCS) files using their own gating protocol. An optional learning module was provi…

0301 basic medicineFlow Cytometry StandardProtocol (science)medicine.medical_specialtyIntracellular cytokine stainingHistologyStaining and LabelingComputer scienceReproducibility of ResultsHarmonizationCell BiologyGatingFlow CytometryPathology and Forensic Medicine03 medical and health sciences030104 developmental biology0302 clinical medicineNeoplasms030220 oncology & carcinogenesismedicineCytokinesHumansMedical physicsImmunotherapyCytometry Part A
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Ancient goat genomes reveal mosaic domestication in the Fertile Crescent

2018

How humans got their goatsLittle is known regarding the location and mode of the early domestication of animals such as goats for husbandry. To investigate the history of the goat, Dalyet al.sequenced mitochondrial and nuclear sequences from ancient specimens ranging from hundreds to thousands of years in age. Multiple wild populations contributed to the origin of modern goats during the Neolithic. Over time, one mitochondrial type spread and became dominant worldwide. However, at the whole-genome level, modern goat populations are a mix of goats from different sources and provide evidence for a multilocus process of domestication in the Near East. Furthermore, the patterns described suppor…

0301 basic medicineFollistatinMESH: DomesticationAGRICULTURE1103CATTLEMESH: FollistatinMESH: AfricaGenome[SHS]Humanities and Social SciencesDomestication0601 history and archaeologyMESH: AnimalsMESH: Genetic VariationMESH: PhylogenyPhylogenyZAGROSmedia_common2. Zero hunger[SDV.EE]Life Sciences [q-bio]/Ecology environmentGenome1311MultidisciplinaryMiddle East060102 archaeologyMosaicismMESH: AsiaGoats06 humanities and the artsEuropeAnimals DomesticMESH: MosaicismReproductionTRAITSAsia[SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistorymedia_common.quotation_subject1204BiologyDNA MitochondrialMESH: GoatsMosaic03 medical and health sciencesPhylogeneticsGenetic variationAnimalsMESH: GenomeMESH: Animals DomesticDNA AncientDietary change[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry Molecular Biology/Biochemistry [q-bio.BM]Domestication[SDV.GEN]Life Sciences [q-bio]/GeneticsNEAR-EASTMESH: DNA MitochondrialGenetic VariationMESH: DNA AncientGENEMODEL030104 developmental biologySHEEPEvolutionary biologyORIGINSAfricaMESH: EuropeScience
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Assessment of embryo morphology and developmental dynamics by time-lapse microscopy: is there a relation to implantation and ploidy?

2017

Time-lapse microscopy (TLM) is an exciting novel technology with great potential for enhancing embryo selection in the embryology laboratory. This non-invasive objective assessment of embryos has provided a new tool for predicting embryo development and implantation potential. TLM detects several morphological phenomena that are often missed with static observations using conventional incubators, such as irregular divisions, blastocyst collapse and re-expansion, timing of blastocoel appearance, and timing of formation and internalization of fragments. Nevertheless, it should be recognized that conventional morphological assessment has been widely accepted as the gold standard by most embryo…

0301 basic medicineGenetic MarkersCell SurvivalAneuploidyFertilization in VitroBiologyTime-Lapse ImagingTime-lapse microscopy03 medical and health sciences0302 clinical medicinePredictive Value of TestsPregnancymedicineSingle Embryo TransferHumansBlastocystEmbryo ImplantationGeneticsMicroscopy030219 obstetrics & reproductive medicinePloidiesEmbryogenesisBlastocoelPregnancy OutcomeObstetrics and GynecologyEmbryomedicine.diseaseCell biology030104 developmental biologymedicine.anatomical_structureBlastocystFertilityTreatment OutcomeReproductive MedicineEmbryologyInfertilityembryonic structuresFemalePloidyFertility and sterility
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Genetic Analysis of Human Preimplantation Embryos

2016

Preimplantation development comprises the initial stages of mammalian development, before the embryo implants into the mother's uterus. In normal conditions, after fertilization the embryo grows until reaching blastocyst stage. The blastocyst grows as the cells divide and the cavity expands, until it arrives at the uterus, where it "hatches" from the zona pellucida to implant into the uterine wall. Nevertheless, embryo quality and viability can be affected by chromosomal abnormalities, most of which occur during gametogenesis and early embryo development; human embryos produced in vitro are especially vulnerable. Therefore, the selection of chromosomally normal embryos for transfer in assis…

0301 basic medicineGeneticsPregnancyanimal structures030219 obstetrics & reproductive medicinemedicine.diagnostic_testGenetic disorderEmbryoBiologymedicine.diseasePreimplantation genetic diagnosisAndrology03 medical and health sciences030104 developmental biology0302 clinical medicinemedicine.anatomical_structureembryonic structuresmedicineBlastocystZona pellucidaEmbryo qualityGenetic testing
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Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming

2016

Despite the widespread interest in direct neuronal reprogramming, the mechanisms underpinning fate conversion remain largely unknown. Our study revealed a critical time point after which cells either successfully convert into neurons or succumb to cell death. Co-transduction with Bcl-2 greatly improved negotiation of this critical point by faster neuronal differentiation. Surprisingly, mutants with reduced or no affinity for Bax demonstrated that Bcl-2 exerts this effect by an apoptosis-independent mechanism. Consistent with a caspase-independent role, ferroptosis inhibitors potently increased neuronal reprogramming by inhibiting lipid peroxidation occurring during fate conversion. Genome-w…

0301 basic medicineGeneticsProgrammed cell deathCell typeCellular Reprogramming TechniquesMutantCell BiologyBiologyIn vitroCell biology03 medical and health sciencesTransduction (genetics)030104 developmental biologyIn vivoGeneticsMolecular MedicineReprogrammingCell Stem Cell
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The desaturase1 gene affects reproduction before, during and after copulation in Drosophila melanogaster

2019

Desaturase1 (desat1) is one of the few genes known to be involved in the two complementary aspects of sensory communication — signal emission and signal reception — in Drosophila melanogaster. In p...

0301 basic medicineGenetics[SDV.GEN]Life Sciences [q-bio]/Geneticsbiologymedia_common.quotation_subject[SDV]Life Sciences [q-bio]MARCMSensory systembiology.organism_classification03 medical and health sciencesCellular and Molecular Neuroscience030104 developmental biology0302 clinical medicineGeneticsDrosophila melanogasterReproductionGene[SDV.BDD]Life Sciences [q-bio]/Development Biology030217 neurology & neurosurgeryComputingMilieux_MISCELLANEOUSmedia_common
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Uterine microbiome—low biomass and high expectations†

2018

AbstractThe existence of different bacterial communities throughout the female reproductive tract has challenged the traditional view of human fetal development as a sterile event. There is still no consensus on what physiological microbiota exists in the upper reproductive tract of the vast majority of women who are not in periods of infection or pregnancy, and the role of bacteria that colonize the upper reproductive tract in uterine diseases or pregnancy outcomes is not well established. Despite published studies and advances in uterine microbiome sequencing, some study aspects—such as study design, sampling method, DNA extraction, sequencing methods, downstream analysis, and assignment …

0301 basic medicineGenital Neoplasms Femalemedicine.medical_treatmentReproductive tractUterusPhysiologyBiology03 medical and health sciences0302 clinical medicinePregnancymedicineHumansBiomassPrecision MedicineUterine microbiomePregnancy outcomesPregnancy030219 obstetrics & reproductive medicineAssisted reproductive technologyMicrobiotaUterusFemale infertilityGenitalia FemaleCell BiologyGeneral Medicinemedicine.diseasePregnancy Complications030104 developmental biologymedicine.anatomical_structureReproductive MedicineHuman fetalFemaleGenital Diseases FemaleBiology of Reproduction
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Dysregulation of DNA methylation induced by past arsenic treatment causes persistent genomic instability in mammalian cells

2015

The mechanisms by which arsenic-induced genomic instability is initiated and maintained are poorly understood. To investigate potential epigenetic mechanisms, in this study we evaluated global DNA methylation levels in V79 cells and human HaCaT keratinocytes at several time points during expanded growth of cell cultures following removal of arsenite exposures. We have found altered genomic methylation patterns that persisted up to 40 cell generations in HaCaT cells after the treatments were withdrawn. Moreover, mRNA expression levels were evaluated by RT-PCR for DNMT1, DNMT3A, DNMT3B, HMLH1, and HMSH2 genes, demonstrating that the down regulation of DNMT3A and DNMT3B genes, but not DNMT1, o…

0301 basic medicineGenome instabilityEpidemiologyHealth Toxicology and MutagenesisMethylationEpigenomeBiology03 medical and health sciences030104 developmental biologyDNA methylationCancer researchDNA mismatch repairEpigeneticsReprogrammingGenetics (clinical)DNA hypomethylationEnvironmental and Molecular Mutagenesis
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Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.

2021

BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…

0301 basic medicineGenome-wide association studyLiver disease0302 clinical medicineENRICHMENT ANALYSISNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseExomeCONFERS SUSCEPTIBILITYGeneticsINSULIN-RESISTANCEmedicine.diagnostic_testFatty liverGastroenterologyAlanine Transaminase1-Acylglycerol-3-Phosphate O-Acyltransferase3. Good healthGENOMEEuropePhenotypeLiver biopsy030211 gastroenterology & hepatologyNonalcoholic Fatty Liver DiseaseMAFLDSingle-nucleotide polymorphismBiologyTransaminaseRisk Assessment03 medical and health sciencesApolipoproteins ENAFLDmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHEPATIC STEATOSISGenetic associationMAFLD Phenotype Reproducibility of Results Risk Assessment Risk Factors Transcriptome Genetic Variation Metabolic Associated Fatty Liver Disease Nonalcoholic Fatty Liver Disease Transaminase 1-Acylglycerol-3-Phosphate O-Acyltransferase Alanine Transaminase Apolipoproteins E Biomarkers Europe Exome Gene Expression Profiling Genetic Predisposition to Disease Genome-Wide Association Study Humans Non-alcoholic Fatty Liver DiseaseHepatologyMUTATIONSGene Expression ProfilingGenetic VariationReproducibility of Resultsmedicine.diseaseX-RECEPTORGENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineMetabolic Associated Fatty Liver DiseaseRNA-SEQ DATATranscriptomePATHOGENICITYBiomarkersGenome-Wide Association StudyGastroenterology
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