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Mostrando 641 - 660 Resultados de 9,396 Para Buscar '"Sanger"', tiempo de consulta: 0.18s Limitar resultados
  1. 641
    “…In this study, we used Sanger sequencing and MLPA in a reflex manner for molecular genetic analysis to confirm CYP21A2-mediated CAH. …”
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    Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency
  2. 642
    “…The problems of metrological support of molecular genetic identification by Sanger DNA sequencing using fluorescent-labeled reaction terminators and capillary electrophoresis are considered. …”
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    Metrological Support of Nucleic Acid Sequence Analysis
  3. 643
    “…The method was then employed, and compared with Sanger sequencing, to characterize norovirus populations in naturally contaminated oysters. …”
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    Amplicon-Based High-Throughput Sequencing Method for Genotypic Characterization of Norovirus in Oysters
  4. 644
    “…METHODS: Integrase sequencing was performed retrospectively by Sanger and next-generation sequencing. Rates of emergence and decline of resistance mutations were calculated using next-generation sequencing data. …”
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    HIV-1 resistance against dolutegravir fluctuates rapidly alongside erratic treatment adherence: a case report
  5. 645
    “…All patients underwent ophthalmic examinations and comprehensive genetic analyses, including Sanger DNA sequencing of BEST1 and whole genome sequencing (WGS). …”
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    Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy
  6. 646
    “…This diagnosis is currently based on Sanger sequencing of at least 42 PCR fragments from the KCNJ11, ABCC8, and INS genes. …”
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    Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome
  7. 647
    “…PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation. …”
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    The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus
  8. 648
    “…RESULTS: The ngs_backbone software is a parallel pipeline capable of analyzing Sanger, 454, Illumina and SOLiD (Sequencing by Oligonucleotide Ligation and Detection) sequence reads. …”
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    ngs_backbone: a pipeline for read cleaning, mapping and SNP calling using Next Generation Sequence
  9. 649
    “…Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is inconclusive. …”
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    Exome Sequencing and Genetic Testing for MODY
  10. 650
    “…Resequencing of three individuals with both NGS platforms and partial Sanger sequencing showed low discrepancy rates (454-Illumina: 0.0071%; Sanger-Illumina: 0.0034%; and Sanger-454: 0.0023%) confirming suitability of both NGS platforms for investigating low mitogenomic diversity. …”
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    Low Diversity in the Mitogenome of Sperm Whales Revealed by Next-Generation Sequencing
  11. 651
    “…Array based target enrichment followed by NGS showed the same accuracy as Sanger sequencing.  Therefore, NGS is ready for implementation in a diagnostic setting.…”
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    Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics
  12. 652
    “…All neXtype results were concordant with the Sanger sequences, demonstrating error-free typing of more than 6000 HLA loci. …”
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    Cost-efficient high-throughput HLA typing by MiSeq amplicon sequencing
  13. 653
    “…The EGFR PCR test demonstrated improved performance relative to Sanger sequencing.…”
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    Clinical Validation of a PCR Assay for the Detection of EGFR Mutations in Non–Small-Cell Lung Cancer: Retrospective Testing of Specimens from the EURTAC Trial
  14. 654
    “…Routine surveillance specimens obtained from 70 patients with pH1N1 infection were evaluated for mutations associated with increased virulence (PB1-F2, PB2 and NS1 genes) or antiviral resistance (neuraminidase gene, NA) using MSCSA and Sanger sequencing. MSCSA and Sanger sequencing results revealed a high concordance (nucleotides >99%, SNPs ∼94%). …”
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    Mass Spectrometry-Based Comparative Sequence Analysis for the Genetic Monitoring of Influenza A(H1N1)pdm09 Virus
  15. 655
    “…We sequenced and assembled BAC clones corresponding to a 1.3-Mbp complex region of chromosome 17q21.31, demonstrating 99.994% identity to Sanger assemblies of the same clones. We targeted 44 differences using Illumina sequencing and find that PacBio and Sanger assemblies share a comparable number of validated variants, albeit with different sequence context biases. …”
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    Reconstructing complex regions of genomes using long-read sequencing technology
  16. 656
    “…CONCLUSION: Sanger sequencing and pyrosequencing are less sensitive and are not efficiently applicable to the detection of PIK3CA mutation in EC samples. …”
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    Diagnostic application of PIK3CA mutation analysis in Chinese esophageal cancer patients
  17. 657
    “…Out of 112 insertion/deletion variants identified among 45 microsatellite amplicons in our study, we found 87.5% agreement between the 454-platform and Sanger sequencing in frequency of variant detection after Benjamini-Hochberg correction for multiple tests. …”
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    The Accuracy, Feasibility and Challenges of Sequencing Short Tandem Repeats Using Next-Generation Sequencing Platforms
  18. 658
    “…Deidentified results from sequencing assays and multiplex ligation-dependent probe amplification (MLPA) were analyzed including 100,102 Sanger sequencing, 2338 next-generation sequencing (NGS), and 21,990 MLPA assays. …”
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    The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy
  19. 659
    “…The diagnosis of reinfection has traditionally been based on direct Sanger sequencing of samples pre- and posttreatment, but not on more sensitive deep sequencing techniques. …”
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    Next-Generation Sequencing Sheds Light on the Natural History of Hepatitis C Infection in Patients Who Fail Treatment
  20. 660
    “…In a dilution series of V600E-mutated DNA in wild-type DNA, the detection limit for the LightMix assay was 1:1000 mutated alleles while it was 1:10 for Sanger sequencing. In line with this, we detected 15 additional mutated melanoma samples and two additional mutated metastatic colorectal cancer samples by the LightMix assay compared to Sanger sequencing. …”
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    Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens
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