Articles with "sanger sequencing" as a keyword



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Sanger sequencing versus INNO-LiPA® HBV PreCore assay for routine detection of precore and basal core promoter mutations in hepatitis virus B chronically infected patients.

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Published in 2018 at "Diagnostic microbiology and infectious disease"

DOI: 10.1016/j.diagmicrobio.2017.12.006

Abstract: We compared the Sanger sequencing and the commercial INNO-LiPA® HBV assay for the routine detection of precore (PC) and basal core promoter (BCP) mutations of hepatitis B virus in chronically infected patients. The overall agreement… read more here.

Keywords: detection; lipa hbv; assay routine; inno lipa ... See more keywords
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Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.

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Published in 2022 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2022.104447

Abstract: MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 144 Indian patients with MPS II from… read more here.

Keywords: 130 unrelated; sanger sequencing; phenotype; genotype phenotype ... See more keywords
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Using real-time PCR as strategy to evaluate performance of PCR and Sanger sequencing reactions

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Published in 2019 at "Forensic Science International: Genetics Supplement Series"

DOI: 10.1016/j.fsigss.2019.10.079

Abstract: Abstract Sanger sequencing is an indispensable technique for mitochondrial ancestry studies. However, it is a time consuming process that requires several resources to obtain high quality electropherograms. To optimize the efficiency of DNA analysis, we… read more here.

Keywords: real time; time pcr; time; pcr ... See more keywords
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P201 Erroneous HLA-B allele typing by sequencing-based typing method that utilizes combinations of Sanger sequencing and rSSO typing

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Published in 2017 at "Human Immunology"

DOI: 10.1016/j.humimm.2017.06.261

Abstract: Allele-level HLA matching reduces graft-versus-host disease and improves overall patient survival after hematopoietic stem cell transplantation (HSCT). Sanger sequencing has been the gold standard for allele-level HLA typing since 1996. The typing strategy typically employs… read more here.

Keywords: rsso typing; erroneous hla; hla typing; hla ... See more keywords
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Combining Genomic, Phenotypic and Sanger Sequencing Data to Elucidate the Phylogeny of the Two-Clawed Spiders (Dionycha).

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Published in 2021 at "Molecular phylogenetics and evolution"

DOI: 10.1016/j.ympev.2021.107327

Abstract: The importance of morphology in the phylogenomic era has recently gained attention, but relatively few studies have combined both types of information when inferring phylogenetic relationships. Sanger sequencing legacy data can also be important for… read more here.

Keywords: sequencing data; genomic phenotypic; phenotypic sanger; combining genomic ... See more keywords
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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

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Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-85182-w

Abstract: Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs… read more here.

Keywords: variants 825; ngs variants; 825 clinical; sanger sequencing ... See more keywords
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Receptor-Binding-Motif-Targeted Sanger Sequencing: a Quick and Cost-Effective Strategy for Molecular Surveillance of SARS-CoV-2 Variants

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Published in 2022 at "Microbiology Spectrum"

DOI: 10.1128/spectrum.00665-22

Abstract: The coronavirus disease 2019 (COVID-19) pandemic resulted in 427 million infections and 5.9 million deaths globally as of 21 February 2022. SARS-CoV-2, the causative agent of the COVID-19 pandemic, frequently mutates and has developed into… read more here.

Keywords: cov variants; cost; sanger sequencing; strategy ... See more keywords
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Development of an efficient Sanger sequencing-based assay for detecting SARS-CoV-2 spike mutations

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Published in 2021 at "PLoS ONE"

DOI: 10.1371/journal.pone.0260850

Abstract: Novel strains of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) harboring nucleotide changes (mutations) in the spike gene have emerged and are spreading rapidly. These mutations are associated with SARS-CoV-2 transmissibility, virulence, or resistance to… read more here.

Keywords: ssg primer; spike mutations; sars cov; primer assay ... See more keywords

Comparison of the Diagnostic Performance of qPCR, Sanger Sequencing, and Whole-Genome Sequencing in Determining Clarithromycin and Levofloxacin Resistance in Helicobacter pylori

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Published in 2020 at "Frontiers in Cellular and Infection Microbiology"

DOI: 10.3389/fcimb.2020.596371

Abstract: Helicobacter pylori antibiotic resistance is increasing worldwide, emphasizing the urgent need for more rapid resistance detection prior to the administration of H. pylori eradication regimens. Macrolides and fluoroquinolones are widely used to treat H. pylori.… read more here.

Keywords: qpcr; levofloxacin; clarithromycin; resistance ... See more keywords
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NGS in the clinical microbiology settings

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Published in 2022 at "Frontiers in Cellular and Infection Microbiology"

DOI: 10.3389/fcimb.2022.955481

Abstract: We hypothesized that targeted NGS sequencing might have an advantage over Sanger sequencing, especially in polymicrobial infections. The study included 55 specimens from 51 patients. We compared targeted NGS to Sanger sequencing in clinical samples… read more here.

Keywords: polymicrobial infections; ngs clinical; microbiology settings; clinical microbiology ... See more keywords
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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

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Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1072784

Abstract: Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator (LYST) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combination with clinical… read more here.

Keywords: molecular diagnostic; cdna sequencing; sanger sequencing; sanger ... See more keywords