Probing Genomic Foundation Models with Splice-Variant Perturbations
As benchmarks saturate, traditional validation methods fail to capture the probabilistic representations of genomic foundation models. This study probes self-supervised generalists (NTv3 650M, Evo2 40B, Genos 10B) alongside task-specific specialists (SpliceAI, AlphaGenome, Borzoi) using a mechanistically focused paradigm centered on expert-curated single-nucleotide substitutions within the…
We haven't written up this one. bioRxiv has the full story — the link below goes straight to it.
