ArticleCell reports methods2025
Combining panel-based and whole-transcriptome-based gene fusion detection by long-read sequencing.
Article in Cell reports methods, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort.NPJ genomic medicine · 2026Article
- Long-Read Transcriptome Sequencing and Functional Validation Reveals Novel and Oncogenic Gene Fusions in Fusion Panel-Negative Gliomas.bioRxiv : the preprint server for biology · 2026Article
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9 authors.
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Abstract
We present a comprehensive gene fusion (GF) detection and analysis workflow that combines targeted panel-based and whole-transcriptome long-read sequencing. We first adapted libraries from the short-read CHOP Cancer Fusion Panel, which targets 119 oncogenes commonly implicated in cancer fusions, for use on Oxford Nanopore Technologies' long-read sequencing platform. Long-read sequencing successfully detected known GFs in panel-positive samples, confirming compatibility, and enabled reduced turnaround times. To expand GF discovery in clinically challenging cases, we analyzed 24 glioma samples with negative short-read fusion panel results using whole-transcriptome long-read sequencing. This identified 20 candidate GFs in panel-negative samples that were absent from current fusion databases, all of which were experimentally validated. In summary, we introduce a computational workflow that combines panel-based and whole-transcriptome long-read sequencing with tailored analysis pipelines to enable fast and comprehensive GF detection in cancer.
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