Genetic & Genomic MedicinemedRxivPreprint
Improved detection of aberrant splicing using the Intron Jaccard Index
Ines F. Scheller, Karoline Lutz, Christian Mertes…·Julien Gagneur
The paper introduces the Intron Jaccard Index to improve aberrant splicing detection in RNA-seq, reducing false positives while maintaining sensitivity in rare disease diagnostics.
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