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321
Intermediate between Idiopathic Hypereosinophilia and Chronic Eosinophilic Leukemia: A Report of Two Hypereosinophilic Cases with Possible Novel Molecular Mutations
Published 2021-01-01“…Here, we report two cases of hypereosinophilia in which five possible novel molecular mutations were identified by targeted next-generation sequencing (NGS) analysis. They were FBXW7, KM2A, TCF3, ERBB4, and MET. …”
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322
Impact of Extracellular Matrix-Related Genes on the Tumor Microenvironment and Prognostic Indicators in Esophageal Cancer: A Comprehensive Analytical Study
Published 2024-01-01“…Our study utilized next-generation sequencing and clinical data from esophageal cancer patients provided by The Cancer Genome Atlas, employing the R package in RStudio for computational analysis. …”
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323
Comparison of Proangiogenic Effects of Adipose-Derived Stem Cells and Foreskin Fibroblast Exosomes on Artificial Dermis Prefabricated Flaps
Published 2020-01-01“…We analyzed the differential microRNA (miRNA) expression in ADSC-Exo using next-generation sequencing (NGS) technology to explore their potential mechanisms in promoting vascularization. …”
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324
Orientia, Rickettsia, and the microbiome in rodent attached chiggers in North Carolina, USA.
Published 2024-01-01“…DNA was extracted from the chiggers, and the V3-V4 regions of the bacterial 16S rRNA gene were sequenced using next-generation sequencing (NGS). Alpha diversity metrics revealed significant differences in bacterial diversity among different collection counties. …”
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325
Intratumor heterogeneity: models of malignancy emergence and evolution
Published 2023-12-01“…Traditional experimental methods involve genomic profiling techniques such as nextgeneration sequencing and fluorescence in situ hybridization. …”
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326
High-throughput sequence-based microsatellite genotyping for the non-model Neotropical tree species Anadenanthera colubrina (Leguminosae)
Published 2025-01-01“…Previously available genetic markers for A. colubrina consisted of a few microsatellites. Next-generation sequencing (NGS) strategies allow simple and cost-effective development of new SSR loci from low-coverage whole genome shotgun sequencing. …”
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327
Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer
Published 2024-01-01“…We report a novel non-V600E mutation (c.1799_1812delinsAT, p.V600_W604delinsD), identified preoperatively with next-generation sequencing (NGS) on the material obtained with fine-needle aspiration cytology (FNAC) performed on a thyroid nodule cytologically suspicious for malignancy in a 35-year-old male patient. …”
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328
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness
Published 2016-01-01“…Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. …”
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329
Mitochondrial DNA Structure in <i>Trypanosoma cruzi</i>
Published 2025-01-01“…They consist of coding and divergent/variable regions, complicating their assembly due to repetitive elements. However, next-generation sequencing (NGS) methods have resolved these issues, enabling the complete sequencing of maxicircles from different strains. …”
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330
The First Infant Bloodstream Infection Caused by Pantoea dispersa in China: A Case Report and Literature Review
Published 2025-02-01“…Through MALDI Biotyper and next-generation sequencing techniques, the pathogen was identified as P. dispersa. …”
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331
Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.
Published 2024-01-01“…A geographically HAE1 cluster was found in the northeast Colombian department of Boyaca, which accounts for four unrelated families, with 79 suspected to be affected members. Next-Generation Sequencing (NGS) was performed in 2 out of 4 families (Family 1 and Family 4), identifying the variants c.1420C>T and c.1238T>G, respectively. …”
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332
High-Risk Genotypes Associated with Poor Response to Controlled Ovarian Stimulation in Indian Women
Published 2023-01-01“…Materials and Methods: A total of 312 females were included in the study comprising 212 women with infertility and 100 controls. Next-generation sequencing technology was employed to sequence multiple genes associated with response to COS. …”
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333
Chlamydia psittaci pneumonia - evolutionary aspects on chest CT
Published 2025-01-01“…Methods In total, 80 cases of C. psittaci pneumonia diagnosed through next-generation sequencing from January 2019 to December 2023 in multiple hospitals in China were collected according to the inclusion criteria and analyzed. …”
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334
Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants
Published 2024-04-01“…The molecular genetic diagnosis was performed using the next-generation sequencing method. Results: Molecular genetic analysis revealed 26 different variants, two of which were novel c.1707+4A>G (IVS4+4A>G) and p.M497K in 34 patients from 31 different families. p.M769Hfs*26 was the variant with the highest allele frequency at 11.3%, followed by the p.H1069Q variant (8%). …”
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335
Genetic Diversity of Human Enterovirus in Kazakhstan, during 2022
Published 2024-01-01“…We then genotyped enteroviral subtypes associated with AM (n = 50) and HA (n = 9) using next-generation sequencing (NGS) on the viral protein 1 (VP1), followed up by whole-genome sequencing of the isolated viral species. …”
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336
Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver
Published 2019-01-01“…Exome sequencing of DNA extracted from the cadaveric tissue specimen performed on the Next Generation Sequencing (NGS) platform yielded 81 genetic variants identified as pathologic. …”
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337
Sanger validation of WGS variants
Published 2025-01-01“…Abstract With the development of next-generation sequencing (NGS) technologies it became possible to simultaneously analyze millions of variants. …”
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338
Challenges in Medicine: The Odyssey of a Patient with Isolated IgG4-Related Eosinophilic Angiocentric Fibrosis Presenting as a Locally Destructive Sinonasal Mass
Published 2021-01-01“…Our case interestingly also had T-cell clonality and isolated isocitrate dehydrogenase 2 enzyme mutation on next-generation sequencing, suggesting a possible role of novel molecular-targeted therapies in this rare disease. …”
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339
Development and validation of a portable device for lab-free versatile nucleic acid extraction
Published 2024-10-01“…By providing an effective on-site sample preparation solution, the widespread adoption of low centrifugal extractions will improve the sensitivity and reliability of NAT and will positively impact other point-of-care technologies such as next generation sequencing (NGS), biomarker detection, and environmental monitoring.…”
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340
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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