Article

Rethinking the pathogenicity of intragenic<i>DMD</i>duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing

2025-04-14

Abstract excerpt

<h4>Purpose</h4> The pathogenicity of intragenic duplications depends on their structural configuration. Tandem duplications often disrupt reading frames and cause gene loss-of-function, whereas interspersed (non-tandem) duplications are largely benign. When the configuration cannot be determined, current guidelines presume a tandem structure, leading to some laboratories automatically classifying such variants as...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d61738f6-299b-5f65-827d-cde40578b5e0
DOI: 10.1101/2025.04.10.25325596

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rethinking the pathogenicity of intragenic<i>DMD</i>duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencingDOI 10.1101/2025.04.10.25325596Read

High-resolution mapping of <i>DMD</i> duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophySemantic proximity Read

Integrated Genotyping Strategies Uncovering Detailed Haplotype Structures and Characterization of DMD duplicationsSemantic proximity Read

The cryptic complex rearrangements involving the DMD gene causing completely opposite manifestations: etiologic clues revealed by optical genome mappingSemantic proximity Read

Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal ScreeningSemantic proximity Read

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.Semantic proximity Read

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.Semantic proximity Read

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.Semantic proximity Read

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencingSemantic proximity Read

Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.Semantic proximity Read

Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical management.Semantic proximity Read

RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathySemantic proximity Read

EMQN best practice guidelines for genetic testing in dystrophinopathiesSemantic proximity Read