Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC.
basic_science · Level V
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- Record sourced from PubMed, PMID 40973179.
- Also identified by DOI 10.1093/bioinformatics/btaf525 and PMC identifier 12479391.
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Abstract
Functional testing of RNA using minigene splicing assays is increasingly being realized to demonstrate the effects of variants on splicing. 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. MAGIC is available at https://github.com/LBGC-CFB/MAGIC. Zenodo DOI: 10.5281/zenodo.17052752.
Medical subject headings
- High-Throughput Nucleotide Sequencing
- Software
- RNA Splicing
- Sequence Analysis, RNA
- RNA Isoforms