DUVEL: an active-learning annotated biomedical corpus for the recognition of oligogenic combinations
Database (Oxford) 2025-01-19
Summary:
While biomedical relation extraction (bioRE) datasets have been instrumental in the development of methods to support biocuration of single variants from texts, no datasets are currently available for the extraction of digenic or even oligogenic variant relations, despite the reports in literature that epistatic effects between combinations of variants in different loci (or genes) are important to understand disease etiologies. This work presents the creation of a unique dataset of oligogenic...