medRxiv
Genomic foundation models extend clinicopathologic and transcriptomic prognostication in soft tissue sarcoma
By Esperança-Martins M, Ravasqueira MS, Dias S and 3 others.
Abstract
Background
Clinicopathologic (SARCULATOR) and transcriptomic (CINSARC) models are established prognostication tools in soft tissue sarcoma, but neither directly represent the sequence context of tumor genomic alterations. Evo2 is a genomic foundation model trained to learn the grammar of DNA/RNA sequences. We tested whether Evo2-derived features from tumor short variants, fusions, and rearrangements improve survival prognostication beyond clinicopathologic and transcriptomic risk models.



