SpliceAI and Pangolin on one shared annotation: masking, rankings and 27 unscored MFASS variants
In this exploratory study, with annotation, reference genome and variants matched, SpliceAI and Pangolin put 63 to 66 assay-confirmed splice disruptions in their top 100 of the same 8,297 held-out MFASS variants. Masking raised average precision slightly for both tools; no top-100 difference was established.
