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feat: external summary statistics support#233

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external_sumstats_only
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feat: external summary statistics support#233
juhis wants to merge 1 commit into
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external_sumstats_only

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@juhis juhis commented Jul 7, 2026

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Support consuming non-FinnGen GWAS summary statistics, which differ from FinnGen sumstats in three ways this addresses:

  • --pval-is-mlog10p: accept -log10(p) inputs, with thresholds, comparisons and sorts handled in the correct direction. The dynamic LD threshold is computed in log space via ndtri_exp so ultra-significant p-values do not underflow (chi2_1.isf(p) == ndtri(p/2)**2).
  • tolerant extra columns: warn and skip requested --extra-cols absent from the file instead of raising.
  • --finngen-variants-only: drop loci/variants not present in FinnGen.

Consolidate the significance filter to a single inclusive helper (_passes_threshold_eq) per review of #230. Add unit tests and WDL wiring for the new flags.

Support consuming non-FinnGen GWAS summary statistics, which differ from
FinnGen sumstats in three ways this addresses:
- --pval-is-mlog10p: accept -log10(p) inputs, with thresholds, comparisons
  and sorts handled in the correct direction. The dynamic LD threshold is
  computed in log space via ndtri_exp so ultra-significant p-values do not
  underflow (chi2_1.isf(p) == ndtri(p/2)**2).
- tolerant extra columns: warn and skip requested --extra-cols absent from
  the file instead of raising.
- --finngen-variants-only: drop loci/variants not present in FinnGen.

Consolidate the significance filter to a single inclusive helper
(_passes_threshold_eq) per review of #230. Add unit tests and WDL wiring
for the new flags.

Co-Authored-By: Claude Opus 4.8 <noreply@anthropic.com>
@juhis juhis requested a review from Lipastomies July 7, 2026 14:27
@juhis juhis mentioned this pull request Jul 7, 2026
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