#!/bin/bash -Ceuo pipefail snv=$(bcftools view -H -f PASS -v snps germline_control_2.haplotyper_rf.gt_corrected.vcf.gz | wc -l) indel=$(bcftools view -H -f PASS -v indels germline_control_2.haplotyper_rf.gt_corrected.vcf.gz | wc -l) { printf "snv_count\t%s\n" "$snv" printf "indel_count\t%s\n" "$indel" } > germline_control_2.snv_indel.tsv bcftools norm -m - -f Homo_sapiens_assembly38.fasta -Oz -o giab.norm.vcf.gz na12878_hardcore.vcf.gz bcftools index -t giab.norm.vcf.gz bcftools view -f PASS -Oz -o calls.filt.vcf.gz germline_control_2.haplotyper_rf.gt_corrected.vcf.gz bcftools norm -m - -f Homo_sapiens_assembly38.fasta -Oz -o calls.norm.vcf.gz calls.filt.vcf.gz bcftools index -t calls.norm.vcf.gz bcftools isec -p isec_out -Oz calls.norm.vcf.gz giab.norm.vcf.gz giab_total=$(bcftools view -H giab.norm.vcf.gz | wc -l) giab_recov=$(bcftools view -H isec_out/0003.vcf.gz | wc -l) giab_missed=$(bcftools query -f '%ID|%CHROM:%POS:%REF:%ALT\n' isec_out/0001.vcf.gz \ | awk -F'|' '{ if ($1 != "" && $1 != ".") print $1; else print $2 }' \ | paste -sd';' -) : ${giab_missed:=NONE} { printf "giab_truth_total\t%s\n" "$giab_total" printf "giab_recovered_count\t%s\n" "$giab_recov" printf "giab_missed_variants\t%s\n" "$giab_missed" } >> germline_control_2.snv_indel.tsv cat <<-END_VERSIONS > versions.yml "DAQ:CONTROL_METRICS:GERMLINE_METRICS:GERMLINE_SNV_INDEL": bcftools: $(bcftools --version | head -n1 | awk '{print $2}') END_VERSIONS