Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants

24 May 2023

Abstract excerpt

BACKGROUND: Oxford Nanopore Technology (ONT) third-generation sequencing (TGS) is a versatile genetic diagnostic platform. However, it is nonetheless challenging to prepare long-template libraries for long-read TGS, particularly the ONT method for analysis of hemoglobinopathy variants involving complex structures and occurring in GC-rich and/or homologous regions. METHODS: A multiplex long PCR was designed to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood groups and transfusion
Share to Genomics and Rare Diseases
Share to Hemoglobinopathies and Related Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37311260
DOI: 10.1093/clinchem/hvad073

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy VariantsPMID 37311260Read ↗

Simultaneous detection of thalassemia, hemoglobinopathies, and G6PD variants using long-read nanopore sequencing: genetic complexity and heterogeneity in Thailand.Semantic proximity Read ↗

Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China.Semantic proximity Read ↗

The comprehensive detection of hemoglobinopathy variants via long-read sequencingSemantic proximity Read ↗

Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia VariantsSemantic proximity Read ↗

The comprehensive detection of hemoglobinopathy variants via long-read sequencingSemantic proximity Read ↗

The comprehensive detection of hemoglobinopathy variants via long-read sequencingSemantic proximity Read ↗

Multisite Evaluation of an Amplification-based Nanopore Sequencing Solution to Analyze Challenging Clinically Relevant Variants in Genes Associated with Hereditary DiseasesSemantic proximity Read ↗

Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of ThalassemiaSemantic proximity Read ↗

Incremental Clinical Value of Single-Molecule Nanopore Sequencing in Thalassemia Testing: A Prospective, Double-blind, Multicenter StudySemantic proximity Read ↗

CAS12A-TARGETED MULTIPLEXED NANOPORE SEQUENCINGSemantic proximity Read ↗

Adaptation of Oxford Nanopore technology for hepatitis C whole genome sequencing and identification of within-host viral variantsSemantic proximity Read ↗

NGS4THAL, a one-stop molecular diagnosis and carrier screening tool for thalassemia and other hemoglobinopathies by next-generation sequencingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.