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nicolynnvila/splicing_epistasis_okgp_panelfree

splicing_epistasis_okgp_panelfree Panel-free 1KG cis-pair universe for the splicing-epistasis paper §2A patch. Filters 1000 Genomes phase-3, cis-pair within 100 nt both constituents ≥ 3 carriers d_ss_min ≤ 100 nt (splice-relevant subset) TopLD-overlap excluded (haplotype-block confound) Rows 124,888 pairs across 1,746 genes arm split: {'unobserved': 109126, 'observed': 15762} Columns epistasis_id, arm, gene, chrom, mut1, mut2… See the full description on the dataset page: https://huggingface.co/datasets/nicolynnvila/splicing_epistasis_okgp_panelfree.

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splicingepistasisokgp_panelfree

Panel-free 1KG cis-pair universe for the splicing-epistasis paper §2A patch.

Filters

—1000 Genomes phase-3, cis-pair within 100 nt
—both constituents ≥ 3 carriers
—dssmin ≤ 100 nt (splice-relevant subset)
—TopLD-overlap excluded (haplotype-block confound)

Rows

—124,888 pairs across 1,746 genes
—arm split: {'unobserved': 109126, 'observed': 15762}

Columns

epistasisid, arm, gene, chrom, mut1, mut2, distance, nmut1, nmut2, nboth

Used by modal_app/score_okgp.py to score with SpliceAI-pytorch + Pangolin for cross-engine consensus residual.