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

Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection.

Annals of laboratory medicine - 1 Sept 2026

Yeom Eunju, Park Yu Jin, Shin Saeam, Lee Seung-Tae, Lee Mi-Kyeong, Lee Kyoung-Ryul, Won Dongju, Choi Jong Rak

Abstract excerpt

Background: Excessive repeat sequence expansion in the human genome causes neurodegenerative diseases. Conventional tandem repeat expansion detection methods often fail to amplify GC-rich repeat regions and cannot help in simultaneously detecting multiple regions. To overcome those limitations, we tested the PacBio PureTarget repeat expansion panel, a new target enrichment test without PCR amplification, and...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repeat Expansion

Share to Genotype

Share to High-Throughput Nucleotide Sequencing

Share to Microsatellite Repeats

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 41672630
DOI: 10.3343/alm.2025.0414
PMCID: PMC13458176

Genes

FMR1
DMPK
GC

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

Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection.PMID 41672630Read ↗

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

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

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

Amplification-free, CRISPR-Cas9 Targeted Enrichment and SMRT Sequencing of Repeat-Expansion Disease Causative Genomic RegionsSemantic proximity Read ↗

Robust detection of tandem repeat expansions from long DNA readsSemantic 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 ↗

Detection of long repeat expansions from PCR-free whole-genome sequence dataSemantic proximity Read ↗

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

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

Cas9-enriched nanopore sequencing enables comprehensive and multiplexed detection of repeat expansionsSemantic 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 ↗

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