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321
Optimized convolutional neural network using African vulture optimization algorithm for the detection of exons
Published 2025-01-01“…Abstract The detection of exons is an important area of research in genomic sequence analysis. Many signal-processing methods have been established successfully for detecting the exons based on their periodicity property. …”
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322
Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms
Published 2020-03-01“…Parabricks was able to process a 50× whole-genome sequencing library in under 3 h and Sentieon finished in under 8 h, whereas GATK v4.1.0 needed nearly 24 h. …”
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323
Role of plasmids in antibiotic resistance in clinical infections and implications for epidemiological surveillance: a review
Published 2024-12-01“…Recent technologies like replicon typing and whole genome sequencing (WGS) have become the gold standard for molecular epidemiology of plasmids for the detection and control of epidemics in clinical settings. …”
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324
Long journey of 16S rRNA‐amplicon sequencing toward cell‐based functional bacterial microbiota characterization
Published 2024-09-01“…Furthermore, we present the prospects for further technical development, including the combined use of high‐throughput methods and other informative analyses, such as whole‐genome sequencing in the common unit of the cell, which enables bacterial microbiota characterization based on both the number of cells and their functions.…”
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325
COVID-19 Whole-Genome Resequencing with Redundant Tiling PCR and Subtract-Based Amplicon Normalization Successfully Characterized SARS-CoV-2 Variants in Clinical Specimens
Published 2022-01-01“…With an increasing number of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) sequences gathered worldwide, we recognize that deletion mutants and nucleotide substitutions that may affect whole-genome sequencing are accumulating. Here, we propose an additional strategy for tiling PCR for whole-genome resequencing, which can make the pipeline robust for mutations at the primer annealing site by a redundant amplicon scheme. …”
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326
A sequencing-based method for quantifying gene-deletion mutants of bacteria in the intracellular environment
Published 2025-01-01“…Notably, the simplicity and standardization of the method, rooted in standard whole-genome sequencing protocols, make it easily implementable across various laboratories.…”
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327
Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer
Published 2025-01-01“…Abstract Integration of human papillomavirus (HPV) into the host genome drives HPV-positive head and neck squamous cell carcinoma (HPV+ HNSCC). Whole-genome sequencing of 51 tumors revealed intratumor heterogeneity of HPV integration, with 44% of breakpoints subclonal, and a biased distribution of integration breakpoints across the HPV genome. …”
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328
Reverse Genetic Strategies in Caenorhabditis elegans: Towards Controlled Manipulation of the Genome
Published 2011-01-01“…Caenorhabditis elegans has a complete annotated genome sequence that is augmented by increasing quantities of data from high-throughput postgenomic analyses. …”
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329
Emergence and clonal dissemination of KPC-2- and NDM-1-coharboring Citrobacter freundii in China with an IncR plasmid
Published 2025-02-01“…Comprehensive characterization, including antimicrobial susceptibility testing, plasmid conjugation, whole-genome sequencing, and comparative genomics, was conducted for these clinical strains. …”
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330
Genomic detection of Panton-Valentine Leucocidins encoding genes, virulence factors and distribution of antiseptic resistance determinants among Methicillin-resistant S. aureus iso...
Published 2025-01-01“…Bacterial analysis was carried out using classical microbiological techniques and whole genome sequencing (WGS) using the Illumina Nextseq 550 sequencer platform. …”
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331
Single‐egg comet assay: A protocol to quantify DNA damage in natural bioarchives
Published 2025-02-01“…More generally, the SE‐CA is applicable to testing DNA integrity in individual propagules prior to genome sequencing or to quantify environmental impacts on natural sedimentary biobanks.…”
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332
Improved 11α-hydroxycanrenone production by modification of cytochrome P450 monooxygenase gene in Aspergillus ochraceus
Published 2021-03-01“…To improve the efficiency of 11α-hydroxycanrenone production, the CYP monooxygenase-coding gene of MF018 was predicted and cloned based on whole-genome sequencing results. A recombinant A. ochraceus strain MF010 with the high expression of CYP monooxygenase was then obtained through homologous recombination. …”
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333
Chromosome-level genome assembly of the pine wood nematode carrier Arhopalus unicolor
Published 2025-01-01“…Furthermore, the genome contains 71.74% repeat elements and encompasses 16,450 predicted protein-coding genes. This genome sequence of A. unicolor will be a valuable resource for understanding the genetics and evolutionary history of this species and for developing effective management strategies for this PWN carrier.…”
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334
Resolving Rapid Radiation of Voles and Lemmings (Arvicolinae: Cricetinae, Rodentia) with QuaddRAD Sequencing and Transcriptome Analysis
Published 2025-01-01“…For the first time, whole-genome sequencing data resolved relations within the third radiation wave of the subfamily’s taxa, namely the tribes Arvicolini, Lagurini, and Ellobiusini, which have formed polytomy in mitochondrial trees in earlier articles. …”
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335
MethylBERT enables read-level DNA methylation pattern identification and tumour deconvolution using a Transformer-based model
Published 2025-01-01“…MethylBERT identifies tumour-derived sequence reads based on their methylation patterns and local genomic sequence, and estimates tumour cell fractions within bulk samples. …”
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336
Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens
Published 2013-01-01“…DLEC1 D215N somatic mutation (COSM36702) was identified in a melanoma cell line through whole genome sequencing. However, little is known about the implication and prevalence of this mutation in primary melanomas or in melanocytic nevi. …”
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337
Crown Gall Induced by a Natural Isolate of <i>Brucella</i> (<i>Ochrobactrum</i>) <i>pseudogrignonense</i> Containing a Tumor-Inducing Plasmid
Published 2025-01-01“…Unexpectedly, we found evidence that a natural isolate from a rose crown gall, called NBC51/LBA8980, was a bacterium that did not belong to the <i>Rhizobiaceae</i> family. Whole-genome sequencing revealed that this bacterium contained three large DNA circles with rRNA and tRNA genes, representing one chromosome and two chromids, respectively, and two megaplasmids, including a Ti plasmid. …”
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338
Neuromuscular diseases: genomics-driven advances
Published 2024-11-01“…While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have now been identified, largely due to the adoption of next-generation sequencing (NGS) technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS). These technologies have enabled more precise and earlier diagnoses, although the genetic complexity of many NMDs continues to pose challenges. …”
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339
Unraveling the metabolic landscape of Exophiala spinifera strain FM: Model reconstruction, insights into biodesulfurization and beyond.
Published 2025-01-01“…However, the specific pathway and enzymes involved in this process remain unclear due to limited genome sequencing and metabolic understanding of E. spinifera. …”
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340
Next-Generation Sequencing and Epigenomics Research: A Hammer in Search of Nails
Published 2014-03-01“…., how the genome is marked at specific developmental periods, in different tissues, as well as across individuals and species-the promise of the genome sequencing project in understanding biology cannot be fulfilled. …”
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