ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2023
Long-read sequencing improves diagnostic rate in neuromuscular disorders.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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.
Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- Unified long-read panel for Parkinson's and repeat expansion disorders.NPJ Parkinson's disease · 2026Article
- Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.Annals of neurology · 2026Article
- Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.Human mutation · 2026Article
- Neurofibromatosis Type 1 : A General Review.Journal of Korean Neurosurgical Society · 2025Article
- First Identification of CGG-Repeat Expansions inJournal of clinical neurology (Seoul, Korea) · 2025Article
- Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.Scientific reports · 2025Article
- Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies.Journal of molecular neuroscience : MN · 2025Review
- Spatial and temporal dynamic changes of oral microbiome in removable partial denture wearers: a longitudinal study using full-length 16S rRNA sequencing.Journal of oral microbiology · 2025Article
- Neuromuscular diseases: genomics-driven advances.Genomics & informatics · 2024Review
- Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.International journal of molecular sciences · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Massive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such inaccurate genome assembly, the inability to detect large structural variants, and variants located in hard-to-sequence regions like highly repetitive areas. The recently emerged PacBio single-molecule real-time (SMRT) and Oxford nanopore technology (ONT) long-read sequencing (LRS) methods have been shown to overcome most of these technical issues, leading to an increase in diagnostic rate. LRS methods are contributing to the detection of repeat expansions in novel disease-causing genes (e.g.,
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.