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Add trans_geno_chromosome parameter and improve trans-QTL pipeline#1310

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gaow merged 1 commit intoStatFunGen:mainfrom
al4225:main
Apr 9, 2026
Merged

Add trans_geno_chromosome parameter and improve trans-QTL pipeline#1310
gaow merged 1 commit intoStatFunGen:mainfrom
al4225:main

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@al4225 al4225 commented Apr 9, 2026

  • Add --trans-geno-chromosome parameter to specify a different genotype chromosome for trans analysis, enabling phenotype chrX vs genotype chrY analysis
  • Support both single .bed/.pgen file (filter variants by chromosome after loading) and manifest file (load chromosome-specific plink file) modes
  • Update trans output filename: _chrX_geno_chrY.trans_qtl when trans_geno_chromosome is set, _chrX.trans_qtl otherwise
  • Fix region_list parsing in trans step to support comment lines, no header, and tab-separated format
  • Remove --entrypoint from help output

Note: when running trans analysis split by chromosome (e.g. phenotype chr1 x genotype chr2, phenotype chr1 x genotype chr3, etc.), the q-values computed per-run are NOT accurate because they are based on a subset of tests. The q-values need to be recalculated after combining all results across runs.

- Add `--trans-geno-chromosome` parameter to specify a different genotype
  chromosome for trans analysis, enabling phenotype chrX vs genotype chrY
  analysis
- Support both single .bed/.pgen file (filter variants by chromosome after
  loading) and manifest file (load chromosome-specific plink file) modes
- Update trans output filename: `_chrX_geno_chrY.trans_qtl` when
  trans_geno_chromosome is set, `_chrX.trans_qtl` otherwise
- Fix region_list parsing in trans step to support comment lines, no header,
  and tab-separated format
- Remove --entrypoint from help output

Note: when running trans analysis split by chromosome (e.g. phenotype chr1 x
genotype chr2, phenotype chr1 x genotype chr3, etc.), the q-values computed
per-run are NOT accurate because they are based on a subset of tests. The
q-values need to be recalculated after combining all results across runs.

Co-Authored-By: Claude Opus 4.6 (1M context) <noreply@anthropic.com>
@gaow gaow merged commit 8588e59 into StatFunGen:main Apr 9, 2026
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2 participants