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2441
Cell Differentiation Trajectory Predicts Prognosis and Immunotherapeutic Response in Clear Cell Renal Cell Carcinoma
Published 2022-01-01“…Primary single cell culture and single cell sequencing are novel research technologies. In this study, we explored the differentiation status of ccRCC cells and its significance in prognosis and immunotherapeutic response through bioinformatics. …”
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2442
Somatic Mutaome Profile in Human Cancer Tissues
Published 2013-12-01“…The Cancer Genome Atlas database includes large amounts of sequencing and omics data generated from diverse human cancer tissues. …”
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2443
Wastewater metagenomics in Africa: Opportunities and challenges.
Published 2024-01-01“…These include variability in wastewater composition due to differing local customs, limited infrastructure for sequencing and data analysis, and a shortage of bioinformatics expertise. …”
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2444
Genotypic Profiling of Bacillus cereus Recovered from Some Retail Foods in Ogun State, Nigeria, and Their Phylogenetic Relationship
Published 2020-01-01“…Thirty of the isolates were subjected to molecular identification by 16S rDNA sequencing. The thirty sequences were deposited in GenBank for accession number. …”
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2445
Chromosome-level genome assembly of Fistularia commersonii (Syngnathiformes, Fistulariidae)
Published 2025-01-01“…In this study, we achieve assembly of a chromosome-level genome for F. commersonii by harnessing the precision of PacBio HiFi sequencing in conjunction with the sophistication of Hi-C sequencing technologies. …”
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2446
The curated Lactobacillus acidophilus NCFM genome provides insights into strain specificity and microevolution
Published 2025-01-01“…Abstract Background The advent of next generation sequencing technologies has enabled a surge in the number of whole genome sequences in public databases, and our understanding of the composition and evolution of bacterial genomes. …”
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2447
Chromosome-level genome assembly of a destructive leaf-mining moth Eriocrania semipurpurella alpina
Published 2025-01-01“…BUSCO completeness values of 97.6%. 49.02% of the genome sequences were recognized as repetitive sequences, and a total of 22,581 protein-coding genes were annotated. …”
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2448
Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
Published 2025-02-01“…Genetic sequencing confirmed the THRB gene alteration (p.M442T) in three family members. …”
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2449
Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)
Published 2025-01-01“…Sanger sequencing of both families revealed perfect segregation of the identified variant in all family members. 3D protein modeling revealed substantial changes in the protein’s secondary structure. …”
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2450
Multiplex-PCR technique to predict polymorphic antigens – M, N, S and s – and associations between their alleles and Mia-associated hybrid glycophorins
Published 2025-01-01“…Remarkably, multiplex PCR was well optimised, and the results aligned with serological phenotyping and DNA sequencing data with maximum accuracy and reliability; this confirmed our findings on its validity in predicting MNSs phenotypes. …”
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2451
Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
Published 2022-01-01“…Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. …”
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2452
Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
Published 2024-01-01“…Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results. According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. …”
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2453
Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review
Published 2025-01-01“…Pathogenic variants were identified in COQ8B in the exome studies and confirmed by direct sequencing.ResultsClinical exome sequencing revealed biallelic variants of the COQ8B gene in 2 families. …”
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2454
Edaravone dexborneol alleviates pericyte-mediated fibrosis depositing extracellular matrix through TGF-β1/IL-11 in cerebral small vessel disease
Published 2025-02-01“…Subsequently, the results of sequencing were confirmed in both cellular and mouse model. …”
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2455
Rapidly Fatal Postlaparoscopic Liver Infection from the Rarely Isolated Species Clostridium butyricum
Published 2020-01-01“…Liver examination at autopsy showed cystic spaces, necrosis, and spore-forming Gram-positive rods. 16sRNA gene sequencing of the cystic liver tissue identified the organism as C. butyricum.…”
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2456
Genetic characteristics involving the PD-1/PD-L1/L2 and CD73/A2aR axes and the immunosuppressive microenvironment in DLBCL
Published 2022-04-01“…The immunosuppressive effect of these two pathways on the tumor microenvironment was evaluated via RNA sequencing. Single-cell RNA sequencing was further applied to investigate the dysfunctional CD8+ T cells. …”
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2457
Metagenomic insights into the development of microbial communities of straw and leaf composts
Published 2025-01-01“…Using a comprehensive approach with chemical analyses of the substrates, amplicon, and full metagenome sequencing data, we have shown that such communities may be a source of identifying the highly effective decomposing species with novel PULs.…”
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2458
Deciphering the therapeutic effects of Xiyanping injection: insights into pulmonary and gut microbiome modulation, SerpinB2/PAI-2 targeting, and alleviation of influenza a virus-in...
Published 2025-01-01“…In this study, we established an IAV infection mice model, and utilized 16 S rRNA sequencing, RNA sequencing, protein chips, and molecular docking, to investigate the mechanisms of XYP injection on altering pulmonary and gut microbiota, and identifying its target sites. …”
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2459
A stratified two-stage tumor molecular profiling algorithm to identify clinically actionable molecular alterations in pancreatic cancer☆
Published 2025-03-01“…Stage 1 comprised immunohistochemistry for mismatch repair deficiency and targeted sequencing employing a 33-gene next-generation sequencing panel covering common PC drivers and DNA damage response genes. …”
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2460
Deciphering the generation of heterogeneity in esophageal squamous cell carcinoma metastasis via single-cell multiomics analysis
Published 2025-02-01“…In conjunction, we integrated these data with 55 scRNA-seq datasets, ChIP-seq or CUT&Tag sequencing data, Hi-C sequencing data, bulk RNA-seq data, and bulk ATAC-seq data from ESCC cell lines to dissect the mechanisms underlying the heterogeneity of ESCC and tumor microenvironment (TME). …”
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