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Mostrando 661 - 680 Resultados de 9,396 Para Buscar '"Sanger"', tiempo de consulta: 0.18s Limitar resultados
  1. 661
    “…The mutation was confirmed by Sanger sequencing. It segregated with the pathological phenotype. …”
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    Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia
  2. 662
    “…Through exon sequencing and Sanger sequencing, we identified 21 genes that were highly associated with H7N9 influenza infection. …”
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    Multiple gene mutations identified in patients infected with influenza A (H7N9) virus
  3. 663
    “…RESULTS: All supplements yielded DNA from multiple species, rendering Sanger sequencing results for rbcL and ITS2 regions either uninterpretable or non-reproducible between the experimental replicates. …”
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    Authentication of Herbal Supplements Using Next-Generation Sequencing
  4. 664
    “…HS testing achieved 100x greater sensitivity than Sanger. HS Sanger sequencing was capable of detecting < 1 mutant allele in background of 1000 wild-type alleles (1:1000). …”
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    Using high-sensitivity sequencing for the detection of mutations in BTK and PLCγ2 genes in cellular and cell-free DNA and correlation with progression in patients treated with BTK inhibitors
  5. 665
    “…CONCLUSION: Ion PGM/OTG-snpcaller showed acceptable performance with good concordance with Sanger sequencing. However, Ion PGM Dx/Torrent Suite showed many discrepant results not suitable for use in a clinical laboratory, requiring further optimization of the data analysis for calling variants.…”
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    Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2
  6. 666
    “…The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL/METHODS: Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. …”
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    Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)
  7. 667
    “…New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. …”
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    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
  8. 668
    “…BACKGROUND: Minority drug resistance mutations (DRMs) that are often missed by Sanger sequencing are clinically significant, as they can cause virologic failure in individuals treated with antiretroviral therapy (ART) drugs. …”
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    Detection of minority drug resistant mutations in Malawian HIV-1 subtype C-positive patients initiating and on first-line antiretroviral therapy
  9. 669
    “…Sanger sequencing produced a combination of sequences from multiple copies of 16S rRNA genes. …”
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    Information about variations in multiple copies of bacterial 16S rRNA genes may aid in species identification
  10. 670
    “…Previous studies have mainly focused on the heterogeneity in tprK in propagated strains using a clone-based Sanger approach. Few studies have investigated tprK directly from clinical samples using deep sequencing. …”
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    Profile of the tprK gene in primary syphilis patients based on next-generation sequencing
  11. 671
    “…Line probe assays detected ≥5% mutants. Sanger sequencing required the presence of around 15% mutant bacilli to be detected as (hetero) resistant, while targeted deep sequencing detected ≤1% mutants. …”
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    Fluoroquinolone heteroresistance in Mycobacterium tuberculosis: detection by genotypic and phenotypic assays in experimentally mixed populations
  12. 672
    “…The result was verified by Sanger sequencing. Functional characterization of the identified variant was completed by reverse transcription PCR (RT‐PCR), Sanger sequencing, and fluorogenic quantitative PCR (qPCR). …”
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    Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
  13. 673
    “…Work originally utilised Sanger sequencing methods targeting specific NOTCH3 exons. …”
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    Investigating diagnostic sequencing techniques for CADASIL diagnosis
  14. 674
    “…To identify the causative gene, next‐generation‐based target capture sequencing was performed on these two fetuses, followed by Sanger Sequencing in unrelated healthy controls. Segregation analysis of the candidate variant was performed in parents by using Sanger sequencing. …”
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    Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
  15. 675
    “…Amplicon sequencing of the 16S rRNA gene is commonly used for the identification of bacterial isolates in diagnostic laboratories and mostly relies on the Sanger sequencing method. The latter, however, suffers from a number of limitations, with the most significant being the inability to resolve mixed amplicons when closely related species are coamplified from a mixed culture. …”
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    A Sample-to-Report Solution for Taxonomic Identification of Cultured Bacteria in the Clinical Setting Based on Nanopore Sequencing
  16. 676
    “…Over the study period, Sanger sequencing and/or two different DNA-based next generation sequencing (NGS) assays were used. …”
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    Frequency of MET exon 14 skipping mutations in non-small cell lung cancer according to technical approach in routine diagnosis: results from a real-life cohort of 2,369 patients
  17. 677
    “…We investigated COL5A1 intragenic deletions/duplications by Multiplex Ligation‐dependent Probe Amplification (MLPA), excluded the recessive classical‐like EDS type 2 by AEBP1 Sanger analysis, and retested COL5A1 with the Sanger method. …”
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    Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing
  18. 678
    “…METHODS: The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing (WES) were performed to screen potential mutations. …”
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    A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome
  19. 679
    “…To overcome constraints of DNA isolated from FFPE, we compared pyrosequencing and ddPCR analysis for absolute quantification of BRAF V600E mutation in the DNA extracted from FFPE specimens and compared the results to the qualitative detection information obtained by Sanger Sequencing. Sanger sequencing was able to detect BRAF V600E mutation only when it was present in more than 15% total alleles. …”
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    Machine learning algorithm improved automated droplet classification of ddPCR for detection of BRAF V600E in paraffin-embedded samples
  20. 680
    “…Whole-exome sequencing was performed to find the hereditary susceptibility gene, and Sanger sequencing was performed on a consecutive cohort of 30 BS patients. …”
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    Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?
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