diff --git a/docs/using/Running-PharmCAT-Pipeline.md b/docs/using/Running-PharmCAT-Pipeline.md index c7e48f14..98ad5015 100644 --- a/docs/using/Running-PharmCAT-Pipeline.md +++ b/docs/using/Running-PharmCAT-Pipeline.md @@ -38,7 +38,7 @@ Standard use case: ``` usage: pharmcat_pipeline [-s | -S ] - [--absent-to-ref] [-unspecified-to-ref] [-G] + [-0] [--absent-to-ref] [-unspecified-to-ref] [-G] [-R] [-refRegion ] [-matcher] [-ma] [-matcherHtml] [-research ] [-phenotyper] @@ -65,9 +65,11 @@ Input arguments: Only applicable if you have multiple samples and only want to work on specific ones. Preprocessor arguments: + -0, --missing-to-ref + Assume genotypes at absent or unspecified PGx sites are 0/0. This is the combination of `--absent-to-ref` and `-unspecified-to-ref`. DANGEROUS! --absent-to-ref Assume genotypes at absent PGx sites are 0/0. DANGEROUS! - -unspecified-to-ref + --unspecified-to-ref Assume unspecified genotypes ./. as 0/0 when every sample is './.'. DANGEROUS! -G, --no-gvcf-check Bypass the gVCF check for the input VCF. diff --git a/docs/using/VCF-Preprocessor.md b/docs/using/VCF-Preprocessor.md index 1a5dc316..0ec7e0c4 100644 --- a/docs/using/VCF-Preprocessor.md +++ b/docs/using/VCF-Preprocessor.md @@ -108,6 +108,13 @@ VCF files can have more than 1 sample and should be [bgzip](http://www.htslib.or : Generate 1 VCF file per sample. +-0
or --missing-to-ref
+: This option will add missing PGx positions to the output. Missing PGx positions are those absent in the input VCF or whose genotypes are unspecified as "./." across all samples. This option is equivalent to the combination of `--absent-to-ref` and `--unspecified-to-ref`. +* This option will not convert "./." to "0/0" if any other sample has a specified genotype (`0/0`, `0/1`, etc.) as the unspecified genotypes are likely determined so for good reasons. +* This **SHOULD ONLY BE USED** if you are sure your data is reference at the absent positions +instead of being unreadable/uncallable. Running PharmCAT with positions as absent vs reference can lead to different results. + + --absent-to-ref : This option will add absent PGx positions into the output as homozygous reference. * This **SHOULD ONLY BE USED** if you are sure your data is reference at the absent positions