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feat: add BCF input format support#486

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ikhrustalev wants to merge 1 commit into
PGScatalog:mainfrom
haplotypelabs:feat/bcf-support
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feat: add BCF input format support#486
ikhrustalev wants to merge 1 commit into
PGScatalog:mainfrom
haplotypelabs:feat/bcf-support

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@ikhrustalev

@ikhrustalev ikhrustalev commented Mar 24, 2026

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Summary

Closes #483

Adds BCF (Binary VCF) as a supported input format. plink2 natively supports BCF via --bcf, so this reuses the existing VCF pipeline path with minimal changes.

Changes

  • Accept bcf as a valid value in the samplesheet format column
  • Use --bcf instead of --vcf in PLINK2_VCF when input is BCF
  • Update samplesheet JSON schema
  • Handle BCF file suffixes and .csi index in SamplesheetParser
  • Add example samplesheet, test config (test_bcf), and test module
  • Update docs

Test plan

  • nextflow run main.nf -profile test_bcf,docker passes
  • Existing VCF/pfile/bfile tests unaffected

plink2 natively supports BCF via --bcf flag. This adds BCF as a valid
input format in the samplesheet, reusing the existing VCF pipeline path
with the appropriate plink2 flag.
@ikhrustalev

ikhrustalev commented Mar 24, 2026

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Tested successfully on a 1000 Genomes BCF sample: pipeline ran end-to-end without issues.

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Support BCF input format

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