Article

Comparative RNAseq analysis for the study of motoneuron diseases in multi-omics approaches

2024-05-15

Abstract excerpt

<title>Abstract</title> <p>Nearly half of patients with suspected monogenic Mendelian diseases still remain undiagnosed. The integration of genome sequencing and RNA sequencing can reveal the functional significance of rare changes. This is especially true for deep intronic non-coding variation that contributes to mis-splicing but is difficult to discern when analyzing whole genome data alone. However, this combi...

Topics

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

Identifiers and source

Literature Corpus work: f9132736-ecec-5019-9b1b-21e968c212ad
DOI: 10.21203/rs.3.rs-4259482/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comparative RNAseq analysis for the study of motoneuron diseases in multi-omics approachesDOI 10.21203/rs.3.rs-4259482/v1Read

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicingSemantic 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

Clinical implementation of RNA sequencing for Mendelian disease diagnosticsSemantic proximity Read

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

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle DiseasesSemantic proximity Read

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

Using deep long-read RNAseq in Alzheimer’s disease brain to assess medical relevance of RNA isoform diversitySemantic proximity Read

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian SubcontinentSemantic proximity Read

A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSemantic proximity Read

Genetic diagnosis of Mendelian disorders via RNA sequencingSemantic proximity Read

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

Transcriptome alterations in myotonic dystrophy frontal cortexSemantic proximity Read