Search results for "DUP"

showing 10 items of 499 documents

INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…

2016

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaINTELLECTUAL DISABILITY EPILEPSY MILD DYSMORPHISMS 22q11.2 DISTAL DUPLICATION
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Sindrome da microduplicazione 17p13.3: caratterizzazione di una nuova regione critica per la variante clinica con palatoschisi

2016

Sindrome da microduplicazione 17p13.3, palatoschisi

Settore MED/38 - Pediatria Generale E SpecialisticaSindrome da microduplicazione 17p13.3 palatoschisi
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Attraverso lo specchio

2020

La fiaba racconta un faticoso processo di costruzione dell'identità attraverso un percorso doloroso che conduce la protagonista a rivisitare il suo intricato passato e, andando al cuore delle ferire, a conquistare degli spazi di vita meno densi di certezze, ma sicuramente più autentici. The fairy tale tells of a tiring process of building identity through a painful path that leads the protagonist to revisit her intricate past and, going to the heart of the wounds, to conquer living spaces less dense with certainties, but certainly more authentic.

Settore SPS/08 - Sociologia Dei Processi Culturali E Comunicativiidentità duplicazione specchio labirinto menzogna sognoSettore SPS/12 - Sociologia Giuridica Della Devianza E Mutamento Socialeidentity duplication mirror labyrinth lie dream
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Structure, organization and expression of two clustered cuticle protein genes during the metamorphosis of an insect, Tenebrio molitor.

1998

A 4-kb DNA segment of Tenebrio molitor (Insecta, Coleoptera) genomic DNA containing two larval-pupal cuticular genes has been cloned and sequenced. These genes, transcribed in opposite directions, are related in DNA sequence and the proteins encoded are very similar. Each of them contains a single intron located inside the sequence encoding the signal peptide, and a conserved sequence at -200 bp from the mRNA start position. These similarities in sequence suggest that these genes have evolved by duplication followed by diversification and that they are members of a family of genes with a common ancestry. They are the first example of clustered genes in Tenebrio molitor.

Signal peptideDNA ComplementaryMolecular Sequence DataGenes InsectBiologyBiochemistryDNA sequencingConserved sequenceEvolution MolecularGene duplicationAnimalsAmino Acid SequenceTenebrioPeptide sequenceGeneIn Situ HybridizationGeneticsBase SequenceSequence Homology Amino AcidfungiIntronMetamorphosis BiologicalGene Expression Regulation DevelopmentalIntronsgenomic DNAMultigene FamilyInsect ProteinsEuropean journal of biochemistry
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Optimisation des requêtes de similarité dans les espaces métriques répondant aux besoins des usagers

2012

The complexity of data stored in large databases has increased at very fast paces. Hence, operations more elaborated than traditional queries are essential in order to extract all required information from the database. Therefore, the interest of the database community in similarity search has increased significantly. Two of the well-known types of similarity search are the Range (Rq) and the k-Nearest Neighbor (kNNq) queries, which, as any of the traditional ones, can be sped up by indexing structures of the Database Management System (DBMS). Another way of speeding up queries is to perform query optimization. In this process, metrics about data are collected and employed to adjust the par…

Similarity algebraMetric spacesRequêtes de similaritéSpeedupTheoretical computer science[ MATH.MATH-GM ] Mathematics [math]/General Mathematics [math.GM]Nearest neighbor searchL'intérêt des usagersSearch engine indexingInformationSystems_DATABASEMANAGEMENTAlgèbre pour similarité[MATH.MATH-GM] Mathematics [math]/General Mathematics [math.GM]Espaces métriquesQuery optimizationSimilarity queriesUser's expectation[INFO.INFO-OH] Computer Science [cs]/Other [cs.OH]Metric spaceSimilarity (network science)Search algorithm[ INFO.INFO-OH ] Computer Science [cs]/Other [cs.OH]SargableOptimisation des requêtes de similaritéMathematicsSimilarity query optimization
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Sindrome da duplicazione 1q21: variabile penetranza ed espressività clinica intrafamiliare di un riarrangimento genomico di circa 6 Mb non precedente…

2016

Sindrome da duplicazione 1q21, riarrangimento genomico

Sindrome da duplicazione 1q21 riarrangimento genomicoSettore MED/38 - Pediatria Generale E Specialistica
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RNAi mediated acute depletion of Retinoblastoma protein (pRb) promotes aneuploidy in human primary cells via micronuclei formation

2009

BACKGROUND: Changes in chromosome number or structure as well as supernumerary centrosomes and multipolar mitoses are commonly observed in human tumors. Thus, centrosome amplification and mitotic checkpoint dysfunctions are believed possible causes of chromosomal instability. The Retinoblastoma tumor suppressor (RB) participates in the regulation of synchrony between DNA synthesis and centrosome duplication and it is involved in transcription regulation of some mitotic genes. Primary human fibroblasts were transfected transiently with short interfering RNA (siRNA) specific for human pRb to investigate the effects of pRb acute loss on chromosomal stability. RESULTS: Acutely pRb-depleted fibr…

Small interfering RNAMitosisCell Cycle ProteinsProtein Serine-Threonine KinasesRetinoblastoma ProteinAurora KinasesRNA interferenceChromosomal InstabilityProto-Oncogene ProteinsChromosome instabilitymedicineHumansCentrosome duplicationRNA Small Interferinglcsh:QH573-671MitosisCells CulturedCell NucleusCentrosomebiologylcsh:CytologyRetinoblastomaRetinoblastoma proteinCell BiologyFibroblastsAneuploidymedicine.diseaseCell biologyCentrosomeRNAi Aneuploidy pRBRb anauploidybiology.proteinRNA Interferencebiological phenomena cell phenomena and immunityResearch ArticleBMC Cell Biology
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Faster GPU-Accelerated Smith-Waterman Algorithm with Alignment Backtracking for Short DNA Sequences

2014

In this paper, we present a GPU-accelerated Smith-Waterman (SW) algorithm with Alignment Backtracking, called GSWAB, for short DNA sequences. This algorithm performs all-to-all pairwise alignments and retrieves optimal local alignments on CUDA-enabled GPUs. To facilitate fast alignment backtracking, we have investigated a tile-based SW implementation using the CUDA programming model. This tiled computing pattern enables us to more deeply explore the powerful compute capability of GPUs. We have evaluated the performance of GSWAB on a Kepler-based GeForce GTX Titan graphics card. The results show that GSWAB can achieve a performance of up to 56.8 GCUPS on large-scale datasets. Furthermore, ou…

Smith–Waterman algorithmCUDATitan (supercomputer)SpeedupComputer scienceBacktrackingParallel computingSoftware_PROGRAMMINGTECHNIQUESGraphicsDNA sequencingComputingMethodologies_COMPUTERGRAPHICS
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SWAPHI: Smith-Waterman Protein Database Search on Xeon Phi Coprocessors

2014

The maximal sensitivity of the Smith-Waterman (SW) algorithm has enabled its wide use in biological sequence database search. Unfortunately, the high sensitivity comes at the expense of quadratic time complexity, which makes the algorithm computationally demanding for big databases. In this paper, we present SWAPHI, the first parallelized algorithm employing Xeon Phi coprocessors to accelerate SW protein database search. SWAPHI is designed based on the scale-and-vectorize approach, i.e. it boosts alignment speed by effectively utilizing both the coarse-grained parallelism from the many co-processing cores (scale) and the fine-grained parallelism from the 512-bit wide single instruction, mul…

Smith–Waterman algorithmFOS: Computer and information sciencesMulti-core processorCoprocessorSpeedupSequence databaseComputer scienceParallel computingIntrinsicsComputer Science - Distributed Parallel and Cluster ComputingScalabilitySIMDDistributed Parallel and Cluster Computing (cs.DC)Xeon Phi
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GSWABE: faster GPU-accelerated sequence alignment with optimal alignment retrieval for short DNA sequences

2014

In this paper, we present GSWABE, a graphics processing unit GPU-accelerated pairwise sequence alignment algorithm for a collection of short DNA sequences. This algorithm supports all-to-all pairwise global, semi-global and local alignment, and retrieves optimal alignments on Compute Unified Device Architecture CUDA-enabled GPUs. All of the three alignment types are based on dynamic programming and share almost the same computational pattern. Thus, we have investigated a general tile-based approach to facilitating fast alignment by deeply exploring the powerful compute capability of CUDA-enabled GPUs. The performance of GSWABE has been evaluated on a Kepler-based Tesla K40 GPU using a varie…

Smith–Waterman algorithmSpeedupComputer Networks and CommunicationsComputer scienceSequence alignmentNeedleman–Wunsch algorithmParallel computingDNA sequencingComputer Science ApplicationsTheoretical Computer ScienceDynamic programmingCUDAComputational Theory and MathematicsSoftwareConcurrency and Computation: Practice and Experience
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