Evidence map›Paper›PMID 42401548›Full record

ArticleNature communications2026

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Dennis Yeow, Andre L M Reis, Igor Stevanovski, Neysa Njo, Laura I Rudaks, Bianca R Grosz, Joanne S Sy, Leah Kemp, Sanjog R Chintalaphani, Michael Chin and 30 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

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

40 authors.

Dennis Yeow *Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-7534-7007
Andre L M Reis *Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-7300-1157
Igor StevanovskiGenomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-7713-1979
Neysa NjoGenomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Laura I RudaksNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Bianca R GroszFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Joanne S SyFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Leah KempGenomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Sanjog R ChintalaphaniGenomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Michael ChinMolecular Medicine Laboratory, Concord Repatriation General Hospital, New South Wales Health Pathology, Sydney, NSW, Australia.
Marion StollMolecular Medicine Laboratory, Concord Repatriation General Hospital, New South Wales Health Pathology, Sydney, NSW, Australia.
Danqing ZhuMolecular Medicine Laboratory, Concord Repatriation General Hospital, New South Wales Health Pathology, Sydney, NSW, Australia.
Christina LiangFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Katrina A MorrisNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Andrew HannafordNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Ehsan ShandizDepartment of Neurology, Toowoomba Base Hospital, Toowoomba, QLD, Australia.
Kate E AhmadDepartment of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia.
Shadi El-WahshNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Stephen W ReddelNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Robert Boland-FreitasDepartment of Neurology, Blacktown Hospital, Sydney, NSW, Australia.
Roula GhaouiDepartment of Neurology, Central Adelaide Local Health Network, Royal Adelaide Hospital, Adelaide, SA, Australia.
Stephanie BarnesFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Jonathan SturmCentral Coast Neurosciences Research, Tumbi Umbi, NSW, Australia.
Anna WillardDepartment of Neuroscience, School of Translational Medicine, Alfred Health and Monash University, Melbourne, VIC, Australia.
Mahi JasinarachchiDepartment of Neurology and Neurological Research, St. Vincent's Hospital Melbourne, Melbourne, VIC, Australia.
Simon HawkeFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Neil G SimonFaculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
Lisa WorganFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
David ManserFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Michel TchanFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Neil C GriffithDepartment of Neurology, Liverpool Hospital, Sydney, NSW, Australia.
Ryan L DavisFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0003-0512-8989
Michael C FaheyDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Carolyn M SueNeurodegenerative Service, Princes of Wales Hospital & Neuroscience Research Australia, Sydney, NSW, Australia.
Pamela A McCombeCentre for Clinical Research, University of Queensland, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0003-2704-8517
Karl NgFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Marina L KennersonFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Pak Leng CheongFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-0095-4459
Kishore R KumarNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia. k.kumar@garvan.org.au.ORCID http://orcid.org/0000-0003-3482-6962
Ira W DevesonGenomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia. i.deveson@garvan.org.au.ORCID http://orcid.org/0000-0003-3861-0472

Funding

Department of Health | National Health and Medical Research Council (NHMRC) 2035037
6 · The paper itself

Abstract

The genetic variants that cause inherited myopathies vary widely in type, size and sequence context, encompassing small sequence variants, large structural variants, repeat expansions, and more complex events, such as the D4Z4 macrosatellite contraction and hypomethylation that causes facioscapulohumeral muscular dystrophy. Many of these are challenging to characterise using next-generation sequencing and other older molecular technologies. To address this, we developed a targeted long-read sequencing assay and bioinformatics analysis framework that captures the full suite of genes, variants and epigenetic signatures currently implicated in inherited myopathies. Applying this to a cohort of myopathy patients, we demonstrate the analytical validity of our approach and its improved accuracy and resolution compared to existing methods. Our assay led to new genetic diagnoses in 35.5% (11/31) of patients who remained undiagnosed after standard clinical genetic testing. This methodology constitutes a single streamlined assay for comprehensive genetic and epigenetic characterisation of inherited myopathies.

Indexed as

Epigenesis, GeneticHigh-Throughput Nucleotide SequencingMuscular DiseasesComputational BiologyGenetic TestingHumansMuscular Dystrophy, FacioscapulohumeralSequence Analysis, DNA

Identifiers

PMID42401548
PMCPMC13470197

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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.