End-to-end reproducibility test set for the splicing-epistasis paper (Lynn et al., Genome Medicine, in preparation). 28,642 cis-double SNV pairs from a 138-gene cancer panel, matched in two arms (observed in 1000 Genomes vs. matched unobserved control).
This dataset exists to validate the engine-inference layer of the paper's pipeline. The 4-engine splice-prediction ensemble (Pangolin… See the full description on the dataset page:
https://huggingface.co/datasets/nicolynnvila/splicing_epistasis_okgp_test.
