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2661
Interconnection algorithm of a wide range of pervasive devices for the Internet of things
Published 2018-01-01“…Our approach is to perform it independently within the given task, where the given task can be achieved with its sequencing graph entities, including automate selection, binding, and scheduling. …”
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2662
An evaluation of the severe acute respiratory infection surveillance system in Ireland
Published 2025-02-01“…Time to receipt of whole genome sequencing (WGS) results was 40 days (IQR 30–61). Themes identified in the qualitative evaluation were the complexity of SARI surveillance, dependence on key individuals and skilled staff. …”
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2663
Hypermutability bypasses genetic constraints in SCV phenotypic switching in Pseudomonas aeruginosa biofilms
Published 2025-01-01“…Through experimental evolution and whole-genome sequencing, we show that both wild-type and mutator strains undergo parallel evolution by accumulating compensatory mutations in factors regulating intracellular c-di-GMP levels, particularly in the Wsp and Yfi systems. …”
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2664
Seed banking impacts native Acacia ulicifolia seed microbiome composition and function
Published 2025-01-01“…In this study we investigated the composition and functional potential of seed-associated bacterial epiphytes associated with stored and freshly collected seeds of a native plant, Acacia ulicifolia, using both 16S rRNA gene sequencing and culture-based approaches. Results Seeds obtained from seed banking facilities were found to host significantly less diverse bacterial populations, with substantial reductions in both low-abundance taxa and in community members commonly identified in freshly collected A. ulicifolia seeds. …”
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2665
Isolation, identification, and characterisation of the malachite green detoxifying bacterial strain Bacillus pacificus ROC1 and the azoreductase AzrC
Published 2025-01-01“…We demonstrate immobilized B. pacificus ROC1 can effectively detoxify MG, which highlights a potential method for its biodegradation. Genomic sequencing identified three candidate azo-reductases within B. pacificus ROC1 that could be responsible for the MG-degrading activity. …”
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2666
Association of β-Catenin, APC, SMAD3/4, Tp53, and Cyclin D1 Genes in Colorectal Cancer: A Systematic Review and Meta-Analysis
Published 2022-01-01“…The authors searched PubMed, EMBASE, and Science Direct for relevant reports published between 2000 and 2020 and analyzed them to determine any relationship between the (immunohistochemically/sequencing-detected) gene expression and variants of the selected genes and the survival of CRC patients. …”
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2667
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Published 2025-02-01“…We investigated a Pakistani family with dystrophic epidermolysis bullosa via exome sequencing and identified a pathogenic nonsense variant in COL7A1 NM_000094 c.1573 C > T:p.…”
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2668
Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.
Published 2025-01-01“…<h4>Conclusion</h4>By enhancing sequencing data, NIPT-plus can effectively screen for CNVs as well as chromosomal aneuploidies. …”
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2669
Severe Wound Infection with Photobacterium damselae ssp. damselae and Vibrio harveyi, following a Laceration Injury in Marine Environment: A Case Report and Review of the Literatur...
Published 2013-01-01“…Identification was achieved by use of Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry (MALDI-TOF) and confirmed by 16S rDNA sequencing. Data retrieval from bibliography was complicated since P. damselae has been renamed often with a number of synonyms present in the literature: Photobacterium damsela, Vibrio damselae, Vibrio damsela, Pasteurella damselae, and Listonella damsela. …”
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2670
A Near Complete Genome Assembly of the Oshima Cherry Cerasus speciosa
Published 2025-02-01“…Using Illumina short-read, PacBio long-read, and Hi-C sequencing, we constructed a 269.3 Mbp genome assembly with a contig N50 of 32.0 Mbp. …”
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2671
G3DC: A Gene-Graph-Guided Selective Deep Clustering Method for Single Cell RNA-seq Data
Published 2024-09-01“…Single-cell RNA sequencing (scRNA-seq) technology measures the expression of thousands of genes at the cellular level. …”
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2672
Pea (Pisum sativum L.): the uneasy fate of the first genetical object
Published 2015-07-01“…Meanwhile, we await the completion of pea nuclear genome sequencing in 2016. For working out new molecular markers in pea, the synteny of its genome to the sequenced genome of Medicago truncatula is extensively used. …”
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2673
Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency
Published 2025-01-01“…Additionally, whole-exome sequencing identified compound heterozygous variants in the IARS1 gene (c.2428C>T/c.128T>C), both of which are novel observations.…”
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2674
Phosphoryl guanidine oligonucleotides as primers for RNA-dependent DNA synthesis using murine leukemia virus reverse transcriptase
Published 2022-03-01“…It was shown that the proportion (%) of abortive elongation products of a PGO primer depends on buffer ionic strength, nucleotide sequence of the primer, and the presence and location of phosphoryl guanidine groups in the primer. …”
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2675
EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53
Published 2017-01-01“…Fluorescence in situ hybridization studies (FISH) were negative for cMYC, BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.…”
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2676
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Published 2023-01-01“…Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.…”
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2677
Eye tracking based clustering using the Korean version of the reading the mind in the eyes test
Published 2025-01-01“…The long word fixation time cluster had significantly more total errors and fewer categories completed in the Wisconsin Card Sorting Test, lower backward Digit Span score, and lower sequencing scores in the Theory of Mind Picture Stories Task than in the other clusters. …”
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2678
Genetic diversity of single-celled microorganism Blastocystis sp. and its associated gut microbiome in free-ranging marine mammals from North-Western Mediterranean Sea
Published 2025-01-01“…A genetic and 16S rRNA gene sequencing analysis were conducted over the period 2022–2024 by screening fecal samples from four different species of free-ranging marine mammals (sperm, fin, long-finned pilot and Cuvier's beaked whales) circulating within North-Western Mediterranean Sea. 10 out of 43 fecal samples (23.2 %) were found positive to Blastocystis sp. using molecular tools. …”
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2679
Dynamics of Salmonella Dublin infection and antimicrobial resistance in a dairy herd endemic to salmonellosis.
Published 2025-01-01“…Seven multidrug-resistant isolates were selected for genomic sequencing. Among the resistance determinants identified, a mutation in the gyrA gene, present in all sequenced isolates, was notable. …”
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2680
A Rare Co-Occurrence of Triple Mutations in JAK2, CALR, and MPL in the Same Patient with Myelofibrosis
Published 2022-01-01“…The above case in addition to recent case reports and case series supports the use of broader NGS sequencing panels for diagnosis and prognostication of MPN. …”
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