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

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

PeerJ - 1 Jan 2026

Rujirachaivej Punchita, Phermthong Praew, Rattanakoch Paweesuda, Treeravatananon Lanlana, Saelee Narisara, Chaweewattanaskul Supasiri, Boonlikit Suthavee, Koyvanich Arisa, Panyasai Sitthichai, Karnpean Rossarin, Jomoui Wittaya

Abstract excerpt

Thalassemia, hemoglobinopathies, and glucose-6-phosphate dehydrogenase (G6PD) deficiency represent highly prevalent and genetically heterogeneous inherited hematologic disorders or diseases in Thailand. Conventional molecular approaches require multiple targeted assays to detect deletional and non-deletional variants across globin gene clusters and the G6PD gene, resulting in increased complexity, turnaround...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to Glucosephosphate Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucosephosphate Dehydrogenase Deficiency

Share to Hemoglobinopathies

Share to Mutation

Share to Nanopore Sequencing

Share to Thailand

Share to Thalassemia

Source

Open in PubMed Open full text

Identifiers

PMID: 42602612
DOI: 10.7717/peerj.21605
PMCID: PMC13475388

Genes

G6PD
HBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Simultaneous detection of thalassemia, hemoglobinopathies, and G6PD variants using long-read nanopore sequencing: genetic complexity and heterogeneity in Thailand.PMID 42602612Read ↗

Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy VariantsSemantic proximity Read ↗

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

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

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

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

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

NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing.Semantic proximity Read ↗

Long-Molecule Sequencing: A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and β-Thalassemia Carriers.Semantic proximity Read ↗

The Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS).Semantic proximity Read ↗

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