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pmid:40973179
Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC.
Camille Aucouturier · Nicolas Goardon · Laurent Castéra · Alexandre Atkinson · Thibaut Lavolé · Angélina Legros · Agathe Ricou · Flavie Boulouard · Sophie Krieger · Raphaël Leman
Bioinformatics (Oxford, England) · 2025 doi:10.1093/bioinformatics/btaf525
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Experiment
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Data
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Complete file
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In complex cases, variant pathogenicity is assessed by Sanger sequencing, which can be time consuming and may be replaced by short read sequencing. Moreover, strategies based on long read sequencing of the amplified minigene construct are promising and allow the isoforms to be fully characterized. We introduce MAGIC, a user-friendly tool that first generates the artificial construction genome files required to then perform alignment, assembly and annotation of the isoforms obtained by either short or long read minigene splicing assay sequencing.\nAVAILABILITY AND IMPLEMENTATION: MAGIC is available at https://github.com/LBGC-CFB/MAGIC. 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