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Hello,
I added an option to invert the phase of diploid genotypes in the setGT plugin.
So 0|1 becomes 1|0.

This is useful when one wants to invert the whole phase of a file, or selected samples, or based on a filter.

The function only inverts the phase of diploid genotypes (checks ngt==2 and if bcf_int32_vector_end is present).
Phase flag is set correctly per BCF specs. Note unphased genotypes are also swapped so 0/1 becomes 1/0.

I hope we can get this merged, let me know if there are any changes you would like me to make.

Best regards,
Rick

plugins/setGT.c Outdated
" X .. allele with bigger read depth as determined from FMT/AD\n"
" p .. phase genotype (0/1 becomes 0|1)\n"
" u .. unphase genotype and sort by allele (1|0 becomes 0/1)\n"
" i .. inverse phase of genotype (0|1 becomes 1|0)\n"
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I am not a native speaker, but I think a better description would be "invert the genotype phase"

plugins/setGT.c Outdated
return changed;
}

// inverse phase for a single sample, ngts is the ploidy
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@pd3 pd3 Feb 24, 2025

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invert, not inverse, here and everywhere..

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pd3 commented Feb 24, 2025

Thank you for the pull request. Please add a test, see test/test.pl, and fix the language, then it can be merged.

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@pd3 thank you for your response, I fixed the language and added a test case.

Best regards,
Rick

@pd3 pd3 merged commit 8682b1b into samtools:develop Mar 5, 2025
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pd3 commented Mar 5, 2025

Thank you

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2 participants