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Mostrando 621 - 640 Resultados de 9,396 Para Buscar '"Sanger"', tiempo de consulta: 0.19s Limitar resultados
  1. 621
    “…RESULTS: Our previous studies using Sanger sequencing could detect mutations in 93.1% of 130 disease‐associated UBR1 alleles. …”
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    Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
  2. 622
    “…The molecular identification method commonly uses Sanger's nucleotide sequencing and molecular phylogeny, which are complex and time consuming and constitute another obstacle for forensic investigators. …”
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    Identification of Forensically Important Calliphoridae and Sarcophagidae Species Collected in Korea Using SNaPshot Multiplex System Targeting the Cytochrome c Oxidase Subunit I Gene
  3. 623
    “…This variant was confirmed by Sanger sequencing in the patient and also in her parents who were heterozygous. …”
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    Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations
  4. 624
    “…In this work, we used high-throughput sequencing and Sanger sequencing of individual bacterial colonies to analyze microbial content of commercially available butter brands. …”
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    High-Throughput 16S rRNA Gene Sequencing of Butter Microbiota Reveals a Variety of Opportunistic Pathogens
  5. 625
    “…To systematically investigate the susceptible gene(s), whole‐exome sequencing was performed on the proband and a novel identified variant was confirmed by Sanger sequencing. We also analyzed 26 relatives in three generations using PCR‐restriction fragment length polymorphism (PCR‐RFLP) followed and confirmed by Sanger sequencing. …”
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    A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
  6. 626
    “…Genetic testing was performed by whole-exome sequencing and the results were verified by Sanger sequencing of the proband and his parents. …”
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    Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1
  7. 627
    “…This new, user-friendly tool can provide both fast and reproducible analyses of Sanger sequencing data for the two most common Cryptosporidium gene targets.…”
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    CryptoGenotyper: A new bioinformatics tool for rapid Cryptosporidium identification
  8. 628
    “…The single discordant result, later confirmed by Sanger sequencing was due to the inability of the MASTR Reporter software to identify a 40-bp deletion in BRCA1 . …”
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    Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis
  9. 629
    “…Thirteen isolates (17.3%) were identified by Sanger sequencing to the complex level, indicating that these may belong to uncharacterised species. …”
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    MALDI-TOF Mass Spectrometry as a Rapid Screening Alternative for Non-tuberculous Mycobacterial Species Identification in the Veterinary Laboratory
  10. 630
    “…Clustering differed between Sanger- and NGS-derived consensus and profile sampling sequences, and across gene regions. …”
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    Incorporating Within-Host Diversity in Phylogenetic Analyses for Detecting Clusters of New HIV Diagnoses
  11. 631
    por Zhang, Yanli, Duan, Xiaohong
    Publicado 2022
    “…Polymerase chain reaction (PCR) and Sanger sequencing were carried out using specific primers. …”
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    A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia
  12. 632
    “…Before the advent of next generation sequencing (NGS) technologies, the majority of sequencing data were generated by the Sanger sequencing method. By leveraging Sanger EST data, we have generated a wealth of genetic information for pepper including thousands of SNPs and Single Position Polymorphic (SPP) markers. …”
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    De novo assembly of the pepper transcriptome (Capsicum annuum): a benchmark for in silico discovery of SNPs, SSRs and candidate genes
  13. 633
    “…The concordance rate between droplet digital PCR (ddPCR) (63.6%) and Sanger sequencing (52.1%) detection methods is good (83.5%). …”
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    Clinical Significance of Telomerase Reverse-Transcriptase Promoter Mutations in Hepatocellular Carcinoma
  14. 634
    “…The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) was first made public in 2004 and has been designed to view manual annotation of human, mouse and zebrafish genomic sequences produced at the Wellcome Trust Sanger Institute. …”
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    The vertebrate genome annotation (Vega) database
  15. 635
    por Richardson, Valerie
    Publicado 2002
    “…Sulston was founding director of the Sanger Centre, Cambridge, England, which he headed from 1992 to 2000. …”
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    A Conversation with John Sulston
  16. 636
    por Behjati, Sam, Tarpey, Patrick S
    Publicado 2013
    “…In contrast, the previous Sanger sequencing technology, used to decipher the human genome, required over a decade to deliver the final draft. …”
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    What is next generation sequencing?
  17. 637
    “…With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.…”
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    Methylmalonic Acidemia with Novel MUT Gene Mutations
  18. 638
    “…Plant genomes generated by Sanger and Next Generation Sequencing (NGS) have provided insight into species diversity and evolution. …”
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    Genome Sequencing and Assembly by Long Reads in Plants
  19. 639
    por Subirana, Juan A., Messeguer, Xavier
    Publicado 2018
    “…Our results also suggest that the lengths of some annotated genes with internal repeats which were assembled using Sanger sequencing are likely to be incorrect.…”
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    How Long Are Long Tandem Repeats? A Challenge for Current Methods of Whole-Genome Sequence Assembly: The Case of Satellites in Caenorhabditis elegans
  20. 640
    “…These treatments may be more appropriately directed to patients who might respond if the tumor tissue is additionally tested by next-generation sequencing with a multi-gene panel and Sanger sequencing of a blood sample. In this study, we compared the results obtained using the next-generation sequencing multi-gene panel to a known germline BRCA1/2 mutational state determined by conventional Sanger sequencing to evaluate the landscape of somatic mutations in high-grade serous ovarian cancer tumors. …”
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    Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer
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