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

Toward the clinical application of long-read sequencing in repeat-expansion disorders

20 Aug 2026

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Genomics and Rare Diseases
Share to Glycogen Storage Diseases and Myoclonus

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 42625059
DOI: 10.1038/s41588-026-02694-9

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

Toward the clinical application of long-read sequencing in repeat-expansion disordersPMID 42625059Read ↗

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read ↗

Recent advances in the detection of repeat expansions with short-read next-generation sequencingSemantic proximity Read ↗

[Resolving Genomic Mysteries with Long-read Sequencing].Semantic proximity Read ↗

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnosticsSemantic proximity Read ↗

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read ↗

Unveiling pathogenic and non-pathogenic FGF14 repeat expansions: identification, sequence, and secondary structureSemantic proximity Read ↗

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.Semantic proximity Read ↗

Long-Read Sequencing Allows Increased Detection of De Novo Mutations.Semantic proximity Read ↗

Long-read sequencing across the <i>C9orf72</i> ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read ↗

Long-read targeted sequencing uncovers clinicopathological associations forC9orf72-linked diseasesSemantic proximity Read ↗

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencingSemantic proximity Read ↗

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

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