nicolynnvila/splicing_epistasis_okgp_noncancer1000
Splicing epistasis — non-cancer 1000-gene control set 167,322 cis-double SNV pairs (83,661 observed + 83,661 unobserved-matched) in 1000 Genomes, enumerated within a 1000-gene random sample of protein-coding genes excluding all OncoKB entries. Built as a control comparator for the OncoKB-987-driver dataset to test whether the splicing-epistasis depletion signal (Lynn et al., Section 2 ¶1-5) is panel-specific or generalizes to non-cancer genes. Same methodology as paper §2: ≤100… See the full description on the dataset page: https://huggingface.co/datasets/nicolynnvila/splicing_epistasis_okgp_noncancer1000.
Splicing epistasis — non-cancer 1000-gene control set
167,322 cis-double SNV pairs (83,661 observed + 83,661 unobserved-matched) in 1000 Genomes, enumerated within a 1000-gene random sample of protein-coding genes excluding all OncoKB entries.
Built as a control comparator for the OncoKB-987-driver dataset to test whether the splicing-epistasis depletion signal (Lynn et al., Section 2 ¶1-5) is panel-specific or generalizes to non-cancer genes.
Same methodology as paper §2: ≤100 nt window, ≥3 carriers/variant, TopLD r² ≥ 0.2 dropped, greedy 1:1 matched arms keyed on gene + log-rarity bin + distance ±2 nt. seed=42.
Constraint (pLI) distribution of the 1000 sampled genes:
- pLI < 0.1 (LoF-tolerant): 727
- pLI ≥ 0.9 (LoF-intolerant): 141
- 0.5 ≤ pLI < 0.9: 53
- 0.1 ≤ pLI < 0.5: 79
Same columns as nicolynnvila/splicing_epistasis_okgp_test and ..._okgp_oncokb987.