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

A pilot study on the application of Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing in myotonic dystrophy type 1.

Clinica chimica acta; international journal of clinical chemistry - 15 Sept 2026

Lau Nike Kwai Cheung, Tong Tammy Tsz Yan, Chong Yeow Kuan, Ching Chor Kwan

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion in the DMPK gene, but conventional polymerase chain reaction and Southern blot-based workflows provide limited resolution for large expansions and somatic mosaicism. This pilot study evaluated Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing. Fifteen samples, including Coriell reference materials,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DMPK gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myotonic Dystrophy

Share to Myotonin-Protein Kinase

Share to Nanopore Sequencing

Share to Pilot Projects

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 42214742
DOI: 10.1016/j.cca.2026.121118

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A pilot study on the application of Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing in myotonic dystrophy type 1.PMID 42214742Read ↗

Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2Semantic proximity Read ↗

Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.Semantic proximity Read ↗

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1Semantic proximity Read ↗

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.Semantic 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 ↗

Characterization of full-length <i>CNBP</i> expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencingSemantic proximity Read ↗

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencingSemantic proximity Read ↗

Medically relevant tandem repeats in nanopore sequencing of control cohortsSemantic proximity Read ↗

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.Semantic proximity Read ↗

Optical genome mapping enables accurate repeat expansion testingSemantic proximity Read ↗

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disordersSemantic proximity Read ↗

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cellsSemantic proximity Read ↗

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