Evidence map›Paper›PMID 40004498›Full record

ArticleGenes2025

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Clarissa Rocca, David Murphy, Chris Clarkson, Matteo Zanovello, Delia Gagliardi, Queen Square Genomics, Rauan Kaiyrzhanov, Javeria Alvi, Reza Maroofian, Stephanie Efthymiou and 6 more

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Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Clarissa RoccaDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
David MurphyDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Chris ClarksonWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Matteo ZanovelloDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0003-3343-1547
Delia GagliardiDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Queen Square GenomicsDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Rauan KaiyrzhanovDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Javeria AlviDepartment of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore 54000, Punjab, Pakistan.
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0003-4900-9877
Tipu SultanDepartment of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore 54000, Punjab, Pakistan.
Jana VandrovcovaDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
James PolkeNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Robyn LabrumNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Arianna TucciWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.ORCID 0000-0001-5644-0070

Funding

Medical Research Council MR/S006753/1
6 · The paper itself

Abstract

BACKGROUND/

objectivesShort tandem repeat expansions are the most common cause of inherited neurological diseases. These disorders are clinically and genetically heterogeneous, such as in myotonic dystrophy and spinocerebellar ataxia, and they are caused by different repeat motifs in different genomic locations. Major advances in bioinformatic tools used to detect repeat expansions from short read sequencing data in the last few years have led to the implementation of these workflows into next generation sequencing pipelines in healthcare. Here, we aimed to evaluate the clinical utility of analysing repeat expansions through exome sequencing in a large cohort of genetically undiagnosed patients with neurological disorders.

methodsWe here analyse 27 disease-causing DNA repeats found in the coding, intronic and untranslated regions in 12,496 exomes in patients with a range of neurogenetic conditions.

resultsWe identified-and validated by polymerase chain reaction-29 repeat expansions across a range of loci, 48% (

conclusionsWe show that the key factors that influence the genotyping rate of repeat expansion loci analysis are the sequencing read length and exome capture kit. These results provide important information about the performance of exome sequencing as a genetic test for repeat expansion disorders.

Indexed as

DNA Repeat ExpansionExomeMicrosatellite RepeatsNervous System DiseasesCohort StudiesExome SequencingFemaleGenotypeGenotyping TechniquesHigh-Throughput Nucleotide SequencingHumansMaleMyotonic DystrophySpinocerebellar Ataxiasexome sequencingExpansionHunterHuntington diseasemyotonic dystrophyrepeat expansion diseaserepeat expansion diseasesshort read sequencingshort tandem repeatspinocerebellar ataxia

Identifiers

PMID40004498
PMCPMC11855749

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.