Is there an existing module for this?
Is there an open PR for this?
Is there an open issue for this?
Description
Sniffles can genotype a given set of structural variants in a long-read alignment (forced calling, --genotype-vcf). It uses the same --input BAM/CRAM and writes the same --vcf output as regular SV calling, with the known SVs as one additional optional file.
Proposal: add this to the existing sniffles module as an optional genotype_vcf in the first input tuple (tuple val(meta), path(input), path(index), path(genotype_vcf), [] for regular calling) and a --genotype-vcf argument built from it. A gzipped sites VCF is decompressed first, because Sniffles reads the file as plain text (fritzsedlazeck/Sniffles#613). Tests use the small HG002 ONT subset and known-SV VCF added in nf-core/test-datasets#2302.
This replaces the earlier proposal of a separate sniffles/genotypevcf module, after review feedback that the genotype mode belongs in the existing module.
Are you going to work on this?
Generated by Claude
Is there an existing module for this?
Is there an open PR for this?
Is there an open issue for this?
Description
Sniffles can genotype a given set of structural variants in a long-read alignment (forced calling,
--genotype-vcf). It uses the same--inputBAM/CRAM and writes the same--vcfoutput as regular SV calling, with the known SVs as one additional optional file.Proposal: add this to the existing
snifflesmodule as an optionalgenotype_vcfin the first input tuple (tuple val(meta), path(input), path(index), path(genotype_vcf),[]for regular calling) and a--genotype-vcfargument built from it. A gzipped sites VCF is decompressed first, because Sniffles reads the file as plain text (fritzsedlazeck/Sniffles#613). Tests use the small HG002 ONT subset and known-SV VCF added in nf-core/test-datasets#2302.This replaces the earlier proposal of a separate
sniffles/genotypevcfmodule, after review feedback that the genotype mode belongs in the existing module.Are you going to work on this?
Generated by Claude