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ArtiFusion is a tool to simulate artificial fusion events by modifying a given reference genome. The tool copies parts of the exonic sequence of gene A within the reference genome FASTA sequence into the downstream region of gene B and replaces the copied regions of gene A with Ns. The breakpoints are defined by using a size ratio between gene A and gene B and are always placed on exon-exon junctions. Intronic and intergenic regions remain unchanged. The approach can be used to benchmark fusion detection tools with realistic biological data. In contrast to simulating NGS reads (ART package, https://www.niehs.nih.gov/research/resources/software/biostatistics/art/index.cfm), we do not lose the biological relevance of sequencing data.

License: MIT License

Python 100.00%

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