Search results for "illumina"

showing 10 items of 153 documents

Statistically robust methylation calling for whole-transcriptome bisulfite sequencing reveals distinct methylation patterns for mouse RNAs

2017

AbstractCytosine-5 RNA methylation plays an important role in several biologically and pathologically relevant processes. However, owing to methodological limitations, the transcriptome-wide distribution of this mark has remained largely unknown. We previously established RNA bisulfite sequencing as a method for the analysis of RNA cytosine-5 methylation patterns at single-base resolution. More recently, next-generation sequencing has provided opportunities to establish transcriptome-wide maps of this modification. Here we present a computational approach that integrates tailored filtering and data-driven statistical modeling to eliminate many of the artifacts that are known to be associate…

0301 basic medicineRNA methylationBisulfite sequencingMethodComputational biologyBiologyTranscriptome03 medical and health sciencesMiceRNA modificationsRNA TransferRNA Ribosomal 28SGeneticsm5CAnimalsHumansRNA MessengerRNA Processing Post-TranscriptionalRNA-Directed DNA MethylationBisulfite sequencingGenetics (clinical)GeneticsHigh-Throughput Nucleotide SequencingRNAMethyltransferasesMethylationRibosomal RNADNA Methylation030104 developmental biologyTransfer RNADNA methylationIllumina Methylation AssayTranscriptome
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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

2018

AbstractBackground:Many European laboratories offer molecular genetic analysis of theCFTRgene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom’s CFTR MASTR Dx kit to obtain CE-IVD certification.Methods:A total of 164 samples, previously analyzed with well-established “reference” methods for t…

0301 basic medicineValidation studycongenital hereditary and neonatal diseases and abnormalitiesCertification[SDV]Life Sciences [q-bio]Clinical BiochemistrySequencing dataCFTR molecular diagnosiCystic Fibrosis Transmembrane Conductance RegulatorComputational biology030105 genetics & heredityBiologyCFTR molecular diagnosisDNA sequencingIn vitro diagnosticCftr genecystic fibrosis03 medical and health sciencesHumanscystic fibrosiCE-IVD certificationBiochemistry (medical)Reproducibility of ResultsIllumina miseqSequence Analysis DNAGeneral MedicineMolecular analysisEurope030104 developmental biologyMulticenter studycomparative sequencing analysicomparative sequencing analysisMutationnext-generation sequencingMultiplex Polymerase Chain Reaction
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A widely used sampling device in colorectal cancer screening programmes allows for large-scale microbiome studies.

2018

We read with interest the article by Passamonti et al ,1 reporting the performance of two different faecal immunochemical tests (FITs) highlighting the importance of standardisation and validation of screening methodologies. Conventionally, laboratory-based FIT is the preferred approach in testing for occult blood in faeces, which includes colorectal cancer screening programmes.2–4 The potential of preserving stable faecal samples in a widely used FIT buffer for microbiome research would enable prospective microbiome studies in generally healthy subjects undergoing colorectal cancer screening. For this purpose, we evaluated faecal sample stability in the commonly used OC-Sensor (Eiken Chemi…

0301 basic medicineVeterinary medicine2312BiologySampling device03 medical and health sciencesHemoglobins0302 clinical medicineHumansMass Screening1506Microbiomecolonic microfloraEarly Detection of CancerMicrobiotaGastroenterologyHealthy subjectsIllumina miseqIon semiconductor sequencingPostScriptSample stabilityGastrointestinal Microbiome030104 developmental biologyColorectal cancer screeningMetagenomicsOccult Bloodepidemiology030211 gastroenterology & hepatologyGuaiacColorectal NeoplasmsGut
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High-Throughput Mapping of 2′-O-Me Residues in RNA Using Next-Generation Sequencing (Illumina RiboMethSeq Protocol)

2017

Detection of RNA modifications in native RNAs is a tedious and laborious task, since the global level of these residues is low and most of the suitable physico-chemical methods require purification of the RNA of interest almost to homogeneity. To overcome these limitations, methods based on RT-driven primer extension have been developed and successfully used, sometimes in combination with a specific chemical treatment. Nowadays, some of these approaches have been coupled to high-throughput sequencing technologies, allowing the access to transcriptome-wide data. RNA 2'-O-methylation is one of the ubiquitous nucleotide modifications found in many RNA types from bacteria, archaea, and eukarya.…

0301 basic medicinechemistry.chemical_classificationbiologyComputer science2'-O-methylationRNAComputational biology010402 general chemistrybiology.organism_classification01 natural sciencesPrimer extensionDNA sequencing0104 chemical sciences03 medical and health sciences030104 developmental biologychemistryRNA modificationDECIPHERNucleotideLigationProtocol (object-oriented programming)Throughput (business)Illumina dye sequencingBacteriaArchaea
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Tumor Heterogeneity, Single-Cell Sequencing, and Drug Resistance

2016

Tumor heterogeneity has been compared with Darwinian evolution and survival of the fittest. The evolutionary ecosystem of tumors consisting of heterogeneous tumor cell populations represents a considerable challenge to tumor therapy, since all genetically and phenotypically different subpopulations have to be efficiently killed by therapy. Otherwise, even small surviving subpopulations may cause repopulation and refractory tumors. Single-cell sequencing allows for a better understanding of the genomic principles of tumor heterogeneity and represents the basis for more successful tumor treatments. The isolation and sequencing of single tumor cells still represents a considerable technical ch…

0301 basic medicineprecision medicinelcsh:Medicinelcsh:RS1-441Pharmaceutical ScienceReviewsingle-cell sequencingcirculating tumor cellsBiologylaser-capture microdissectionmulti-region sequencingcancer treatmentDNA sequencinglcsh:Pharmacy and materia medicaxenograft tumor models03 medical and health sciencesCirculating tumor cellDrug DiscoveryIllumina dye sequencingMicrodissectionLaser capture microdissectionnext generation sequencingWhole Genome AmplificationGeneticswhole genome amplificationflow cytometrytumor ecosystemslcsh:RRNA sequencing030104 developmental biologySingle cell sequencingintratumoral heterogeneityindividualized therapyMolecular MedicinePyrosequencingmicromanipulationPharmaceuticals
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Recensioni

2012

London 2012. Sustainable Design, Delivering a Games Legacy è una monografia pubblicata nel gennaio del 2012, dalla casa editrice americana John Wiley & Sons Inc., e non ancora radotta in italiano. In quest’opera l’autrice, Hattie Hartman, architetto e urban designer, formatosi alla Harvard University e al Massachusetts Institute of Technology, scrive alla luce dell’esperienza maturata come Sustainability editor nel settimanale inglese “The Architects’ Journal”, edito dal 1896 a compendio del famoso mensile internazionale “The Architectural Review”, proponendoci una lettura sulla sostenibilità dei lavori per le Olimpiadi di Londra 2012.

2012Londraarchitetturagrandi eventiilluminazionesegnaleticasostenibiledettaglioBarcellonaarredo urbanoOlimpiadiurbanisticatrasportiSettore ICAR/18 - Storia Dell'Architettura1992.
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Enhanced field-of-view integral imaging display using multi-Köhler illumination.

2014

A common drawback in 3D integral imaging displays is the appearance of pseudoimages beyond the viewing angle. These pseudoimages appear when the light rays coming from each elemental image are not passing through the corresponding microlens, and a set of barriers must be used to avoid this flipping effect. We present a pure optical arrangement based on Köhler illumination to generate these barriers thus avoiding the pseudoimages. The proposed system does not use additional lenses to project the elemental images, so no optical aberrations are introduced. As an added benefit, Köhler illumination provides a higher contrast 3D display. This work was supported in part by the Plan Nacional I + D …

3-D displayslight raysField of viewStereo displaySensitivity and SpecificityOpticsImaging Three-DimensionalImage Interpretation Computer-AssistedKöhler illuminationLightingviewing angleoptical arrangementPhysicsMicrolensIntegral imagingbusiness.industryReproducibility of ResultsViewing angleImage EnhancementRayAtomic and Molecular Physics and Opticsintegral imagingLight intensity3D integral imagingfield of viewselemental imagesbusinessArtifactsAlgorithmsOptics express
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In assenza di intervento. Rappresentazioni digitali di restauri virtuali

2015

La simulazione della realtà attraverso le tecniche di rappresentazione digitale viene oggi in aiuto dei restauratori poiché consente loro di verificare l’impatto di un restauro ancor prima di intervenire. Ciò può contribuire a evitare interventi troppo invasivi e a contenere errate pratiche che, a volte, irrimediabilmente cancellano le tracce originali. Il saggio analizza alcune esperienze di ricerca sull’illuminazione nei modelli virtuali che sono emblematiche di un approccio possibile. Le ricostruzioni tridimensionali digitali analizzate forniscono non solo le informazioni spaziali e dimensionali ma anche gli aspetti cromatici e le caratteristiche di illuminazione di un’architettura. Lo s…

3D models virtual reconstruction virtual restoration illuminating the pastSettore ICAR/17 - DisegnoModelli 3D ricostruzione virtuale restauro virtuale illuminare il passato
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Live imaging of developmental processes in a living meristem of Davidia involucrata (Nyssaceae)

2014

Morphogenesis in plants is usually reconstructed by scanning electron microscopy and histology of meristematic structures. These techniques are destructive and require many samples to obtain a consecutive series of states. Unfortunately, using this methodology the absolute timing of growth and complete relative initiation of organs remain obscure. To overcome this limitation, an in vivo observational method based on Epi-Illumination Light Microscopy (ELM) was developed and tested with a male inflorescence meristem (floral unit) of the handkerchief tree Davidia involucrata Baill. (Nyssaceae). We asked whether the most basal flowers of this floral unit arise in a basipetal sequence or, altern…

580 Pflanzen (Botanik)in vivoDavidia involucrataepi-illumination light microscopy (ELM)fungifloral unit meristem (FU meristem)food and beveragesmorphogenesisNyssaceaePlant Sciencelive imaging580 Botanical sciencesFrontiers in Plant Science
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Lattice Corneal Dystrophy Type 1

2014

PURPOSE To evaluate the question whether lattice corneal dystrophy type 1 (LCD1) is of epithelial or stromal origin. METHODS The landmark of advanced LCD1 shows central superficial haze and paracentral stromal lattice lines. In 16 eyes of 8 affected individuals of 2 families, a penetrating keratoplasty was performed. The follow-up was 8 to 16 years after penetrating keratoplasty. Slit-lamp documentation of the patients was evaluated in direct and indirect illumination with dilated pupil to assess the horizontal and vertical pattern of new deposits on the corneal graft. Three affected patients of 2 families are demonstrated in detail. A DNA analysis was performed. RESULTS Gene identification…

AdultMalemedicine.medical_specialtyStromal cellCorneal StromaDNA Mutational AnalysisCorneal graftCorneal KeratocytesCorneal erosionDirect illuminationTransforming Growth Factor betaOphthalmologyTGFBI genemedicineHumansCorneal Dystrophies HereditaryExtracellular Matrix Proteinsbusiness.industryEpithelium Cornealmedicine.diseaseeye diseasesOphthalmologyMutationLattice corneal dystrophyFemalebusinessKeratoplasty PenetratingTGFBICornea
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