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Multiomics characterization of breast angiosarcoma from an Asian cohort reveals enrichment for angiogenesis signaling pathway and tumor-infiltrating macrophages
Published 2025-01-01“…However, unlike head and neck angiosarcoma (AS-HN), AS-B disease characteristics in Asia remain unclear.MethodsWe examined clinical patterns of angiosarcoma patients (n = 176) seen in an Asiantertiary cancer center from 1999 to 2021, and specifically investigated the molecular and immune features of AS-B in comparison to AS-HN. Data from whole genome sequencing (WGS), NanoString gene expression profiling and 10x Genomics Visium spatial transcriptomics were analyzed.ResultsMajority of cases were AS-HN (n = 104; 59.1%), while AS-B (n = 16, all females) accounted for 9.1% of the cases. …”
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322
Serial Paediatrics Omics Tracking in Myalgic Encephalomyelitis (SPOT-ME): protocol paper for a multidisciplinary, observational study of clinical and biological markers of paediatr...
Published 2024-12-01“…ME/CFS patients aged 12–19 years and controls will donate biosamples of urine, blood, and peripheral blood mononuclear cells for an in-depth omics profiling analysis (whole-genome sequencing, metabolomics and quantitative proteomics) while being assessed by gold-standard clinical and neuropsychological measures. …”
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323
Genomic patterns of strain-specific genetic structure, linkage, and selection across fall armyworm populations
Published 2025-02-01“…Here, we used whole genome sequencing population genomics to unravel novel patterns of population structure, linkage, and selection across the genome of a notorious agricultural pest, the fall armyworm. …”
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324
Gut microbial 3α‐hydroxysteroid dehydrogenase promotes depression in males via degrading testosterone
Published 2025-01-01“…We found that A. koreensis administration in mice led to reduced serum testosterone levels and depression‐like behaviors, which were improved by antibiotic treatment. Using whole genome sequencing, the gene mediating testosterone degradation in A. koreensis was identified and annotated as 3α‐hydroxysteroid dehydrogenase (3α‐HSD). …”
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325
Adaptive evolution of stress response genes in parasites aligns with host niche diversity
Published 2025-01-01“…We comparatively investigated antioxidant, heat shock, osmoregulatory, and behaviour-related genes (foraging) in two model parasitic flatworm lineages with contrasting ecological diversity, Cichlidogyrus and Kapentagyrus (Platyhelminthes: Monopisthocotyla), through whole-genome sequencing of 11 species followed by in silico exon bait capture as well as phylogenetic and codon analyses. …”
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326
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
Published 2025-01-01“…Genetic analyses were performed using a combination of targeted resequencing with a hereditary muscle disease panel, whole genome sequencing, multiplex ligation-dependent probe amplification, and long-read sequencing. …”
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327
Multidrug-Resistant Salmonella enterica Serovar Rissen Clusters Detected in Azores Archipelago, Portugal
Published 2019-01-01“…In the present study, we analyzed by whole genome sequencing (WGS) all clinical, animal, food, and environmental isolates received up to 2017 in the Portuguese Reference Laboratories. …”
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328
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
Published 2024-03-01“…Genetic testing was performed, including whole-genome sequencing for the proband’s son and Sanger sequence analysis for the proband and for all available family members. …”
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329
Genomic characteristics and molecular epidemiology of MRSA from medical centers in Mexico: Results from the Invifar network.
Published 2025-01-01“…This study aims to determine the genomic characteristics of MRSA using whole-genome sequencing (WGS) data from medical centers in Mexico and to explore the associations between antimicrobial resistance genes and virulence factors.…”
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330
Antimicrobial Susceptibility of <i>Glaesserella parasuis</i> to Macrolides and Characterization of <i>erm</i>(T)-Carrying Mobile Elements on Chromosome
Published 2025-01-01“…Erythromycin-resistant isolates were sequenced using whole-genome sequencing. Further analysis of these sequences revealed the genetic basis of macrolide resistance in <i>G. parasuis</i>. …”
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331
Targeted detection of sequence variants in cell-free DNA from cerebrospinal fluid in pediatric central nervous system tumors
Published 2025-01-01“…In contrast to broad lower-depth sequencing, commonly referred to as low pass whole genome sequencing (WGS), targeted platforms with a higher depth of coverage have also been established. …”
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332
Understanding the clinical and molecular epidemiological characteristics of carbapenem-resistant Acinetobacter baumannii infections within intensive care units of three teaching ho...
Published 2025-01-01“…Genome characteristics of isolates were investigated by whole genome sequencing. Multilocus sequence typing and phylogenetic trees were used to assess the genetic similarity of isolates. …”
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333
Microbial keratitis in Southern Malawi: a microbiological pilot study
Published 2024-05-01“…We investigated the feasibility of using a novel corneal impression membrane (CIM) for obtaining and processing samples by culture, PCR and whole-genome sequencing (WGS) in patients presenting with suspected MK in Malawi.Methods and analysis Samples were collected from patients presenting with suspected MK using a 12 mm diameter polytetrafluoroethylene CIM disc. …”
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334
Cultivation and molecular characterization of complete genome sequences of M. pneumoniae isolated in Russia
Published 2024-09-01“…Using biological material from patients with confirmed mycoplasma infection, cultures of M. pneumoniae were obtained, for which whole-genome sequencing was carried out, followed by assembly and annotation of the pathogen genome. …”
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335
Study protocol for COVID-19 breakthrough infections and vaccine-induced immune response among a cohort of healthcare workers, Bangladesh.
Published 2024-01-01“…We will also perform Whole Genome Sequencing on a subset of SARS-CoV-2 positive samples with low CT values (Ct ≤ 30) to identify emerging SARS-CoV-2 variants. …”
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336
The Mla pathway promotes Vibrio cholerae re-expansion from stationary phase
Published 2025-02-01“…By monitoring the abundances of genomically barcoded libraries of WT and ∆mlaE strains, we observed that a few barcodes dominated the mutant culture at 96 h, suggesting that the similarity of the population sizes at this time was caused by expansion of a subpopulation containing a mutation that suppressed the defect of ∆mlaE. Whole genome sequencing revealed that mlaE suppressors inactivated flagellar biosynthesis. …”
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337
Antimicrobial resistance, virulence gene profiles, and molecular epidemiology of enterococcal isolates from patients with urinary tract infections in Shanghai, China
Published 2025-01-01“…However, five strains of linezolid-resistant E. faecalis were identified, all of which were confirmed to be optrA-positive through whole-genome sequencing (WGS), with ST300 being reported as the first instance of this ST type in China. …”
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338
The Presence of Two Distinct Lineages of the Foot-And-Mouth Disease Virus Type A in Russia in 2013–2014 Has Significant Implications for the Epidemiology of the Virus in the Region...
Published 2024-12-01“…In this study, we investigated the FMDV strains circulating in Russia during the 2013–2014 period in geographically distant regions utilizing whole genome sequencing followed by maximum-likelihood phylogenetic reconstruction of whole genome and VP1 gene sequences. …”
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339
Draft genome sequence of a co-harbouring blaNDM-5 and mcr-1.1 Escherichia coli phylogroup A isolate associated with patient colonisation in Ireland
Published 2025-01-01“…Antibiotic susceptibility testing was performed using the Sensititre-EUMDRXXF plate. Whole-genome-sequencing was conducted with NextSeq1000, and genomic analysis identified antibiotic-resistance-genes (ARGs) and virulence-factors (VFs). …”
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340
Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
Published 2021-01-01“…Real-time PCR at multiple regions of EYA1 confirmed the existence of this genomic deletion and extended its 5′ boundary beyond the 5′-UTR. Whole genome sequencing subsequently located the 5′ and 3′ breakpoints to 19268 bp upstream to the ATG initiation codon and 3180 bp downstream to exon 5. …”
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