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- task quartet_mendelian {
- Array[File] summary
- Array[File] LCL5_hap
- Array[File] LCL6_hap
- Array[File] LCL7_hap
- Array[File] LCL8_hap
- String docker
- String project
- String cluster_config
- String disk_size
-
- command <<<
- cat ${sep=" " summary} | grep -v 'Family'> mendelian.summary
- sed '1iFamily\tTotal_Variants\tMendelian_Concordant_Variants\tMendelian_Concordance_Rate' mendelian.summary > mendelian.txt
-
- cat mendelian.txt | grep 'INDEL' | cut -f4 | grep -v 'Mendelian_Concordance_Rate' | awk '{for(i=1;i<=NF;i++) {sum[i] += $i; sumsq[i] += ($i)^2}}
- END {for (i=1;i<=NF;i++) {
- printf "%f %f \n", sum[i]/NR, sqrt((sumsq[i]-sum[i]^2/NR)/NR)}
- }' >> quartet_indel_aver-std.txt
-
- cat mendelian.txt | grep 'SNV' | cut -f4 | grep -v 'Mendelian_Concordance_Rate' | awk '{for(i=1;i<=NF;i++) {sum[i] += $i; sumsq[i] += ($i)^2}}
- END {for (i=1;i<=NF;i++) {
- printf "%f %f \n", sum[i]/NR, sqrt((sumsq[i]-sum[i]^2/NR)/NR)}
- }' >> quartet_snv_aver-std.txt
-
- cat ${sep=" " LCL5_hap} ${sep=" " LCL6_hap} ${sep=" " LCL7_hap} ${sep=" " LCL8_hap} | grep ALL | sed s'/,/\t/g' > hap.summary
- sed '1i\Type\tFilter\tTRUTH.TOTAL\tTRUTH.TP\tTRUTH.FN\tQUERY.TOTAL\tQUERY.FP\tQUERY.UNK\tFP.gt\tMETRIC.Recall\tMETRIC.Precision\tMETRIC.Frac_NA\tMETRIC.F1_Score\tTRUTH.TOTAL.TiTv_ratio\tQUERY.TOTAL.TiTv_ratio\tTRUTH.TOTAL.het_hom_ratio\tQUERY.TOTAL.het_hom_ratio' hap.summary > precision_recall
-
- python /opt/hap_summary.py -hap precision_recall -name ${project}
-
- cat variants.calling.qc.txt | cut -f12- | grep -v 'SNV' | awk '{for(i=1;i<=NF;i++) {sum[i] += $i; sumsq[i] += ($i)^2}}
- END {for (i=1;i<=NF;i++) {
- printf "%f %f \n", sum[i]/NR, sqrt((sumsq[i]-sum[i]^2/NR)/NR)}
- }' >> reference_datasets_aver-std.txt
-
- >>>
-
- runtime {
- docker:docker
- cluster:cluster_config
- systemDisk:"cloud_ssd 40"
- dataDisk:"cloud_ssd " + disk_size + " /cromwell_root/"
- }
- output {
- File mendelian_summary = "mendelian.txt"
- File snv_aver_std = "quartet_snv_aver-std.txt"
- File indel_aver_std = "quartet_indel_aver-std.txt"
- File pr = "precision_recall"
- File hap_summary = "variants.calling.qc.txt"
- File precision_recall_aver_std = "reference_datasets_aver-std.txt"
- }
- }
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