Article

Long Read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness

2025-09-09

Abstract excerpt

<title>Abstract</title> <p> Background Identifying the genetic basis of hypotonia and muscle weakness is critical for patient management and family counseling. However, diagnosis is often hindered by diverse genomic alterations, including repeat expansions, structural variants, and methylation defects across multiple loci. Standard-of-care testing, largely based on short-read sequencing, is limited in its abilit...

Topics

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

Identifiers and source

Literature Corpus work: 0a474a71-5137-5eee-8c3f-22688a3738ec
DOI: 10.21203/rs.3.rs-7557869/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long Read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weaknessDOI 10.21203/rs.3.rs-7557869/v1Read

Long-read genome sequencing enhances diagnostics of pediatric neurological disordersSemantic proximity Read

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseasesSemantic proximity Read

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variantsSemantic proximity Read

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseasesSemantic proximity Read

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.Semantic proximity Read

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionSemantic proximity Read

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathiesSemantic proximity Read

Recommendations for whole genome sequencing in diagnostics for rare diseases.Semantic proximity Read

Next generation sequencing for molecular diagnosis of neuromuscular diseasesSemantic proximity Read

NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific ApplicationsSemantic proximity Read

RAPID: A Targeted Long-Read RNA Workflow for Functional Resolution of Splicing Variants in Rare DiseaseSemantic proximity Read

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.Semantic proximity Read