5 articles tagged with #splicing.
On 8,297 held-out MFASS variants, a supervised baseline put 61 splice-disrupting variants in its first 100 and four SpliceAI and Pangolin configurations put 63 to 66. No difference at 100 was established. Pangolin's higher whole-list scores are exploratory and unadjusted. Minigene exon recognition only.
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.
The baseline, SpliceAI and Pangolin found 61, 64 and 65 disruptions in their top 100 MFASS variants. The differences do not establish a reliable winner.
A 1-billion-parameter model conditioned on RNA chemical-probing reactivity folds a held-out transcript to an F1 of 0.987 against an experimentally guided reference.
A technical look at AlphaGenome's architecture, its 2D pairwise embeddings for splicing prediction, and what the model means for clinical variant interpretation.
