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Mostrando 601 - 620 Resultados de 9,396 Para Buscar '"Sanger"', tiempo de consulta: 0.20s Limitar resultados
  1. 601
    “…METHODS: The patient was clinically examined, and the patient and her biological parents underwent genetic analysis using whole exome sequencing (WES) and Sanger sequencing. The foetus of the patient’s mother underwent prenatal diagnostic Sanger sequencing using amniotic fluid obtained at 19 weeks’ gestation. …”
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    Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient
  2. 602
    por Zhang, Wenwen, Huang, Chen, Zhou, Wei
    Publicado 2021
    “…It is sometimes challenging to identify the underlying culprit in thrombophilic individuals based on traditional laboratory testing and Sanger sequencing. PATIENT CONCERNS: A thrombophilic family presented with multiple venous thrombosis was examined. …”
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    Rapid identification of a pathogenic variant of PROS1 in a thrombophilic family by whole exome sequencing: A case report
  3. 603
    “…Then, 34 clinical samples were selected and detected by Sanger sequencing, next generation sequencing (NGS) and array-based MALDI-TOFMS. …”
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    Development of a high-throughput and sensitive assay of fusion genes in lung cancer by array-based MALDI-TOFMS
  4. 604
    “…Sanger sequencing verified homozygosity of the mutation in the proband and his affected sibling. …”
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    A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
  5. 605
    “…Thirteen TBMN cases were analyzed using Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and exome sequencing. …”
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    Mutation Analysis of Thin Basement Membrane Nephropathy
  6. 606
    por Ahmed, S.
    Publicado 2017
    “…Key participants include the Wellcome Trust Sanger Institute, EMB-EBI (EMBL-European Bioinformatics Institute), Open Targets and Elixir. …”
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    Embedding gender equality into institutional strategy
  7. 607
    por Bell, Tim
    Publicado 2017
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    CERN and clouds
  8. 608
    por Wang, Ge, Wang, Yanli, Gao, Chao, Xie, Wanqin
    Publicado 2023
    “…RT-PCR assay and Sanger sequencing were used to detect abnormal RNA splicing. …”
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    Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation
  9. 609
    “…Here we describe the OnRamp protocols and pipeline and show our ability to obtain full sequences from pooled plasmids while detecting sequence variation even in regions of high secondary structure at less than half the cost of equivalent Sanger sequencing.…”
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    Multiplexed long-read plasmid validation and analysis using OnRamp
  10. 610
    “…We report 2 patients with vEDS who were not diagnosed by conventional Sanger sequencing. METHODS: We performed either targeted panel or whole‐genome sequencing. …”
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    Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome
  11. 611
    “…Availability: iMapper is web based and can be accessed at http://www.sanger.ac.uk/cgi-bin/teams/team113/imapper.cgi. Contact: da1@sanger.ac.uk; iMapper@sanger.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online.…”
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    iMapper: a web application for the automated analysis and mapping of insertional mutagenesis sequence data against Ensembl genomes
  12. 612
    “…Many laboratories are simultaneously working with the traditional Sanger ESTs and experimenting with ESTs generated by the 454 Life Science sequencers. …”
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    PAVE: Program for assembling and viewing ESTs
  13. 613
    “…The accuracy of RNA-Seq SNP discovery was tested by comparing SNPs detected in a set of 42 candidate genes expressed in milk that had been resequenced earlier using Sanger sequencing technology. Seventy of 86 SNPs were detected using both RNA-Seq and Sanger sequencing technologies. …”
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    SNP discovery in the bovine milk transcriptome using RNA-Seq technology
  14. 614
    “…BACKGROUND: The decreasing costs of capillary-based Sanger sequencing and next generation technologies, such as 454 pyrosequencing, have prompted an explosion of transcriptome projects in non-model species, where even shallow sequencing of transcriptomes can now be used to examine a range of research questions. …”
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    Next generation transcriptomes for next generation genomes using est2assembly
  15. 615
    “…Assay performance was compared to Sanger sequencing using a panel of 188 specimens. …”
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    Analytical performance of a PCR assay for the detection of KRAS mutations (codons 12/13 and 61) in formalin-fixed paraffin-embedded tissue samples of colorectal carcinoma
  16. 616
    “…The NGS data was 100% concordant with the Sanger sequencing data identifying all 119 previously identified changes in the 20 samples. …”
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    Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
  17. 617
    “…HRMA identified five (4.6%) cases with SRSF2 mutation, completely validated by Sanger sequencing without false positive or negative results. …”
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    Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome
  18. 618
    “…All workflows had alignment of reads to SDHA and NF1 pseudogenes. Compared to Sanger sequencing, variant calling revealed a sensitivity ranging from 83 to 100% and a specificity of 99.9-100%. …”
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    Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma
  19. 619
    “…If the results are positive, Sanger sequencing can be used to confirm the mutation and to determine its type. …”
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    Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods
  20. 620
    “…DYSF gene analysis was performed by Sanger sequencing in 41 patients and targeted next generation sequencing (NGS) in 48 patients. …”
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    Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy
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