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461
Amniotic Band Sequence in an Intrauterine Fetal Demise at 17 weeks of Pregnancy: A case report
Published 2025-03-01“… Amniotic band sequence is a rare disorder characterised by various congenital abnormalities due to constrictions of certain parts of the fetal body by fibrous bands derived from the amniotic sac. …”
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462
Numerical and Experimental Analysis of Stacking Sequences Effects in Composite Mechanical Joints under Impact Loadings
Published 2020-07-01“…One of the most important fields that Researchers have paid less attention to that is to investigate the effect of stacking sequence on the strength of mechanical joints under impact loading. …”
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463
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Published 2025-07-01“…Abstract Despite advanced diagnostic tools, early detection of rare genetic conditions like Noonan syndrome (NS) remains challenging. We evaluated a deep learning model’s real-world performance in identifying potential NS cases using electronic health record (EHR) data, validated through genetic sequencing and clinical assessment. …”
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464
A Novel Statistical Approach to Obtain the Best Visibility Slice in MRI Sequence of Brain Tumors
Published 2024-11-01“…A private dataset of twenty MRI scans (sequences) was used for testing and evaluating the system. …”
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465
Comparative study of tools for copy number variation detection using next-generation sequencing data
Published 2025-07-01“…For the simulated data, we compared their performance across six variant types under 36 configurations, including three variant lengths, four sequencing depths, and three tumor purities. For the real data, we used the overlapping density score (ODS) to evaluate the performance of the 12 detection tools. …”
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466
Hurdles in the personalized medicine implementation path: public’s literacy and misconceptions of whole genomic sequencing test
Published 2025-12-01“…This cross-sectional study disseminated a validated survey online to the public across the UAE using a convenience sampling technique. The survey evaluated socio-demographics, knowledge, and attitudes towards whole genome sequencing. …”
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467
Genetic sequencing of the airborne fungal spectrum and air quality at a public hospital in Mexico City.
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468
Methanol fixation and tagmentation of RNA/DNA hybrids directly enable single-cell transcriptome sequencing
Published 2025-07-01“…ObjectiveSingle-cell transcriptome sequencing is a powerful tool for investigating cellular diversity in normal development and disease. …”
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469
CleanSeqU algorithm for decontamination of catheterized urine 16S rRNA sequencing data
Published 2025-06-01“…Abstract Contamination in low-biomass samples, such as urine, presents a major challenge for 16S rRNA gene sequencing, as extraneous DNA from reagents and the environment often obscures microbial signals. …”
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470
Custom barcoded primers for influenza A nanopore sequencing: enhanced performance with reduced preparation time
Published 2025-04-01“…Additionally, the custom barcoded primer method was evaluated on a variety of clinical sample types. This approach offers a promising solution for influenza A sequencing, providing both high throughput and time efficiency, which significantly improves the time-to-result turnaround, making sequencing more accessible for real-time surveillance.…”
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471
Genotyping of genetically monomorphic bacteria: DNA sequencing in Mycobacterium tuberculosis highlights the limitations of current methodologies.
Published 2009-11-01“…We used as a gold standard the complete DNA sequences of 89 coding genes from a global strain collection. …”
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472
Analysis of antimicrobial resistance and virulence of pathogens in dairy products from Egypt by whole genome sequencing
Published 2025-04-01“…The objectives of this study were to identify the genetic variables, evaluate antibiotic resistance, and isolate microorganisms from raw milk and dairy products. …”
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473
Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.
Published 2014-01-01“…The role of the EWSR1 p.R471C substitution needs to be further evaluated in future studies.…”
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474
Phylogenetic tree-based amino acid sequence generation for proteomics data analysis of unknown species
Published 2025-01-01“…To evaluate this approach, we generated the Helicobacter pylori F16 strain sequence based on the phylogenetic relationships of 29 closely related strains (excluding F16). …”
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475
Diagnostic value of metagenomic next-generation sequencing in patients with osteoarticular infections: a prospective study
Published 2025-05-01“…ABSTRACT Due to the limits of traditional microbiological methods and the complexity of osteoarthritis pathogens, only a few pathogens can be detected. We evaluated metagenomic next-generation sequencing (mNGS) for detecting pathogens in osteoarthritis infection samples. …”
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476
Mapping accuracy of short reads from massively parallel sequencing and the implications for quantitative expression profiling.
Published 2009-07-01“…<h4>Methodology/principal findings</h4>We performed an in silico analysis to evaluate whether incorrect mapping of the sequence reads results in a biased expression pattern. …”
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477
Shotgun Metagenomic Sequencing Analysis as a Diagnostic Strategy for Patients with Lower Respiratory Tract Infections
Published 2025-06-01“…Conventional diagnostic methods (CDMs) for lower respiratory infections (LRIs) have limitations in detecting causative pathogens. This study evaluates the utility of shotgun metagenomic sequencing (SMS) as a complementary diagnostic tool using bronchoalveolar lavage (BAL) fluid. …”
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478
Deep learning for Parkinson’s disease classification using multimodal and multi-sequences PET/MR images
Published 2025-05-01“…A multi-modal and multi-sequence model could further enhance the ability to classify PD.…”
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479
The application of compressed sensing on tumor mutation burden calculation from overlapped pooling sequencing data
Published 2025-05-01“…Based on this, the orthogonal matching pursuit (OMP) algorithm and the basic pursuit (BP) algorithm were used to reconstruct TMB from pooling sequencing data. The performance of these two algorithms was evaluated. …”
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480
Kidney diseases and single-cell sequencing research: a bibliometric analysis from 2015 to 2024
Published 2025-12-01“…Background Single-cell RNA sequencing (scRNA-seq) has revolutionized kidney disease research by enabling high-resolution transcriptomic analysis at the cellular level. …”
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