Article

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

2026-01-28

Abstract excerpt

<h4>Background</h4> Pediatric neuromuscular diseases are genetically and clinically heterogeneous. A substantial proportion remain without a definitive genetic diagnosis despite available clinical molecular testing. RNA-sequencing (RNA-seq) can be used to complement genome or exome sequencing to elucidate or to identify the functional impact of variants of uncertain significance, but when manually analyzed is lim...

Topics

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

Identifiers and source

Literature Corpus work: e7f22d9c-e526-58f1-80f0-60f1bfc9dd87
DOI: 10.64898/2026.01.27.26344940

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsDOI 10.64898/2026.01.27.26344940Read

Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSemantic proximity Read

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variantsSemantic proximity Read

RNA sequencing resolves cryptic pathogenic variants in mitochondrial diseaseSemantic proximity Read

Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes.Semantic proximity Read

Clinical implementation of RNA sequencing for Mendelian disease diagnosticsSemantic proximity Read

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortiumSemantic proximity Read

Clinical validation of RNA sequencing for Mendelian disorder diagnosticsSemantic proximity Read

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.Semantic proximity Read

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohortSemantic proximity Read

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq dataSemantic proximity Read

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibrarySemantic proximity Read

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Semantic proximity Read