5 articles tagged with #splicing.
If you can test 100 variants in a splicing reporter, which score should rank them? On 8,297 held-out MFASS variants, a simple trained baseline put 61 splice-disrupting variants in its first 100, and SpliceAI and Pangolin put 63 to 66. The difference was not established. Pangolin ranked the whole list better in exploratory analyses.
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.
