Francesca Miccolis
DNAfusion: a nf-core pipeline for gene fusion detection on DNA samples.
Rel. Santa Di Cataldo, Elisa Ficarra, Marta Lovino. Politecnico di Torino, Master of science program in Biomedical Engineering, 2022
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Abstract
Next Generation and Long-Read Sequencing technologies have allowed an increase in DNA sample availability. Despite the higher computational and economic costs to obtain DNA samples with respect to RNA samples, the contribution is relevant. A crucial point of chromosomal aberrations is represented by gene fusions, an aberration of the DNA sequence that can determine the generation of new chimeric transcripts or cause the deregulation of the genes involved. Many tools have been proposed for gene fusion detection on RNA samples. However, at the moment, there is no complete open-source pipeline for gene fusion detection on DNA samples. I, therefore, propose a pipeline for gene fusion detection on DNA samples developed with Nextflow as Workflow Management System.
First, the pipeline takes in input fastq paired-end reads
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