• ArtiFuse-computational validation of fusion gene detection tools without relying on simulated reads

    22 days ago - By Oxford Journals

    AbstractMotivationGene fusions are an important class of transcriptional variants that can influence cancer development and can be predicted from RNA sequencing data by multiple existing tools. However, the real-world performance of these tools is unclear due to the lack of known positive and negative events, especially with regard to fusion genes in individual samples. Often simulated reads are used, but these cannot account for all technical biases in RNA-seq data generated from real samples.ResultsHere, we present ArtiFuse, a novel approach that simulates fusion genes by sequence...
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