SEP 4, 2026 · PREPRINT
When Genomic Masking Priors Fail to Transfer: Strong Variant Prediction, Weak Functional Generation
arXiv
A single-center machine learning model development study with mixed results on surrogate endpoints (variant prediction AUROC, functional inpainting), no clinical validation, and failure of the core hypothesis that entropy guidance improves function, warranting independent replication before clinical application.
Reported
GenDA ClinVar SNV AUROC0.774
Improvement over autoregressive b…0.103
Random-span variant AUROC0.777