Article

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms using long-read sequencing

2022-03-04

Abstract excerpt

<h4>ABSTRACT</h4> DNA variants altering the pre-mRNA splicing process represent an underestimated cause of human genetic diseases. Their association with disease traits should be confirmed using functional assays from patient cell lines or other alternative models to detect the formation of aberrant mRNAs. Long-read sequencing is a suitable technique to identify and quantify mRNA isoforms. Available isoform clust...

Topics

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

Identifiers and source

Literature Corpus work: c3fbf397-be6d-5183-8698-6f22b1b0260d
DOI: 10.1101/2022.03.01.482488

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms using long-read sequencingDOI 10.1101/2022.03.01.482488Read

LRP2: A proteogenomics pipeline for long-read informed protein isoform analysis and discoverySemantic proximity Read

IFDlong: an isoform and fusion detector for accurate annotation and quantification of long-read RNA-seq dataSemantic proximity Read

CLASS: Accurate and Efficient Splice Variant Annotation from RNA-seq ReadsSemantic proximity Read

MAJIQ V3 offers improvements in accuracy, performance, and usability for splicing analysis from RNA sequencingSemantic proximity Read

cloudrnaSPAdes: Isoform assembly using bulk barcoded RNA sequencing dataSemantic proximity Read

A systematic benchmark of Nanopore long read RNA sequencing for transcript level analysis in human cell linesSemantic proximity Read

IsoAtlas: Visual interpretation of known and novel transcript isoforms using population-scale long-read evidenceSemantic proximity Read

ScisorWiz: Visualizing Differential Isoform Expression in Single-Cell Long-Read DataSemantic proximity Read

Comprehensive characterization of single cell full-length isoforms in human and mouse with long-read sequencingSemantic proximity Read

SCOTCH: isoform-level characterization of gene expression through long-read single-cell RNA sequencingSemantic proximity Read

A technology-agnostic long-read analysis pipeline for transcriptome discovery and quantificationSemantic proximity Read

Comprehensive characterization of single-cell full-length isoforms in human and mouse with long-read sequencingSemantic proximity Read