About your other comment. If you have a VCF with mulitple samples you must choose one at a time. For example:
- For a header:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_1 Sample_2 Sample_3
command:
./rtg vcfeval --baseline=reference.vcf.gz --bed-regions=roi.bed -c merged_extra.vcf.gz -o multi_vcf -t /path/to/genome.fasta.sdf --sample=Reference_label,Sample_2
- But if you have a multi VCF with the same sample you should rename your initial VCFs to the same label. For example:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_1
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_2
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_3
Should be:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_1
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_1
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_1
To re-run the rtg vcfmerge
Or you can simple use GATK CombineVariants with the
genotypeMergeOptions PRIORITIZEparameter (it's what I recommend) and isn't necessary change the VCF's header sample label.And then you can run
rtg vcfeval./rtg vcfeval --baseline=reference.vcf.gz --bed-regions=roi.bed -c merged_extra.vcf.gz -o multi_vcf -t /path/to/genome.fasta.sdf --sample=Reference_label,Sample_1