Article

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

2024-12-05

Abstract excerpt

<h4>ABSTRACT</h4> Despite advances in diagnostic testing and genome sequencing, the majority of individuals with rare genetic disorders remain undiagnosed. As a complement to genome sequencing, transcriptional profiling can provide insight into the functional consequences of DNA variants on RNA transcript expression and structure. Here we assessed the utility of blood derived RNA-seq in a well-studied, but still...

Topics

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

Identifiers and source

Literature Corpus work: ddb295df-e30c-5449-935d-b7e251c78985
DOI: 10.1101/2024.12.03.24317221

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencingDOI 10.1101/2024.12.03.24317221Read

Stratified evaluation of blood RNA sequencing in a rare disease cohortSemantic proximity Read

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

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

Diagnostic utility of transcriptome sequencing for rare Mendelian diseasesSemantic proximity Read

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohortsSemantic proximity Read

Clinical validation of RNA sequencing for Mendelian disorder diagnosticsSemantic proximity Read

Diverse transcriptomic signatures across human tissues identify functional rare genetic variationSemantic proximity Read

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

Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease triosSemantic proximity Read

Transcriptomic signatures across human tissues identify functional rare genetic variation.Semantic proximity Read

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

Identification of rare-disease genes using blood transcriptome sequencing and large control cohortsSemantic proximity Read