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nicolynnvila/splicing_epistasis_okgp_test

Splicing epistasis — 1000 Genomes matched-arms test set 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). Test purpose 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.

sourceHugging Facemitupdated 4mo agoView on Hugging Face
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18f85354mo ago

upload README.md

nicolynnvila
064e95e4mo ago

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nicolynnvila
3f8032e4mo ago

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nicolynnvila