Targeted characterization of fusion transcripts in tumor and normal tissues via FusionInspector.

Cell reports methods
Authors
Keywords
Abstract

Here, we present FusionInspector for characterization and interpretation of candidate fusion transcripts from RNA sequencing (RNA-seq) and exploration of their sequence and expression characteristics. We applied FusionInspector to thousands of tumor and normal transcriptomes and identified statistical and experimental features enriched among biologically impactful fusions. Through clustering and machine learning, we identified large collections of fusions potentially relevant to tumor and normal biological processes. We show that biologically relevant fusions are enriched for relatively high expression of the fusion transcript, imbalanced fusion allelic ratios, and canonical splicing patterns, and are deficient in sequence microhomologies between partner genes. We demonstrate that FusionInspector accurately validates fusion transcripts and helps characterize numerous understudied fusions in tumor and normal tissue samples. FusionInspector is freely available as open source for screening, characterization, and visualization of candidate fusions via RNA-seq, and facilitates transparent explanation and interpretation of machine-learning predictions and their experimental sources.

Year of Publication
2023
Journal
Cell reports methods
Volume
3
Issue
5
Pages
100467
Date Published
05/2023
ISSN
2667-2375
DOI
10.1016/j.crmeth.2023.100467
PubMed ID
37323575
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