Skip to content

feat(pon): merge cohort PON with external PON before hotspot masking - #29

Merged
berntpopp merged 2 commits into
mainfrom
feat/pon-combine
Oct 18, 2026
Merged

berntpopp merged 2 commits into
mainfrom
feat/pon-combine

Conversation

@berntpopp

Copy link
Copy Markdown
Member

Summary

  • Add optional gatk_resources.extra_panel_of_normals to config, schema, and docs (README.md, config/README.md).
  • Add pon_combine rule in workflow/rules/mutect2.smk to align header contigs with the reference dictionary, drop records on contigs absent from the reference, and merge cohort pon.vcf.gz with extra_panel_of_normals (bcftools concat -a -D) into pon.combined.vcf.gz.
  • Update pon_mask_hotspots and get_pon() in workflow/rules/common.smk so combined PoNs are masked into pon.combined.masked.vcf.gz (or pon.combined.vcf.gz when unmasked), leaving prebuilt panel_of_normals behaviour unchanged.
  • Add unit, bcftools shell integration, schema, and Snakemake dry-run tests covering prebuilt, cohort, and cohort+extra PoNs (each with and without hotspot masking).

Closes #28

Add optional gatk_resources.extra_panel_of_normals and rule pon_combine to sanitize contigs against the reference dictionary, drop records on absent contigs, and merge cohort + external PON VCFs (bcftools concat -a -D) prior to hotspot masking in pon_mask_hotspots.

Closes #28
@berntpopp
berntpopp merged commit 91ba630 into main Oct 18, 2026
2 checks passed
@berntpopp
berntpopp deleted the feat/pon-combine branch October 18, 2026 23:33
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

feat(pon): merge cohort PON with an external PON (e.g. 1000G) before hotspot masking

1 participant