Article

Toblerone: detecting exon deletion events in cancer using RNA-seq

2022-10-31

Abstract excerpt

Cancer is driven by mutations of the genome that can result in the activation of oncogenes or repression of tumour suppressor genes. In acute lymphoblastic leukemia (ALL) focal deletions in IKAROS family zinc finger 1 (IKZF1) result in the loss of zinc-finger DNA-binding domains and a dominant negative isoform that is associated with higher rates of relapse and poorer patient outcomes. Clinically, the presence of...

Topics

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

Identifiers and source

Literature Corpus work: 8062cacb-6b41-502d-8c24-8b9a6d9a2cba
DOI: 10.1101/2022.10.27.514132

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Toblerone: detecting exon deletion events in cancer using RNA-seqDOI 10.1101/2022.10.27.514132Read

Toblerone: detecting exon deletion events in cancer using RNA-seqSemantic proximity Read

RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)Semantic proximity Read

The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemiaSemantic proximity Read

Comprehensive analysis of transcriptome variation uncovers known and novel driver events in T-cell acute lymphoblastic leukemia.Semantic proximity Read

MINTIE: identifying novel structural and splice variants in transcriptomes using RNA-seq dataSemantic proximity Read

TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data.Semantic proximity Read

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001Semantic proximity Read

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemiaSemantic proximity Read

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.Semantic proximity Read

Design and Validation of a Custom Next-Generation Sequencing Panel in Pediatric Acute Lymphoblastic Leukemia.Semantic proximity Read

Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGSSemantic proximity Read

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemiaSemantic proximity Read