Sequence-Based Prioritization of Promoter Regulatory Variants in Colorectal Cancer Using a DNA Foundation Model (opens in new tab)

Noncoding regulatory variants contribute to colorectal cancer (CRC) susceptibility, yet their functional interpretation remains difficult.This is mainly attributed to regulatory effects being context-dependent and most noncoding regions lack reliable genomic annotations. We have developed a computational framework that aids in prioritizing promoter-associated variants using Evo2, a large-scale autoregressive DNA foundation model. In the framework, variants were mapped to promoter regions acro...