benchmark

codescripts/extract_tables.py

 
 parser.add_argument('-fastqc', '--fastqc', type=str, help='multiqc_fastqc.txt',  required=True)
 parser.add_argument('-fastqscreen', '--fastqscreen', type=str, help='multiqc_fastq_screen.txt',  required=True)
-parser.add_argument('-hap', '--happy', type=str, help='multiqc_happy_data.json',  required=True)
+#parser.add_argument('-hap', '--happy', type=str, help='multiqc_happy_data.json',  required=True)
 
 parser.add_argument('-project', '--project_name', type=str, help='project_name',  required=True)
 
 
 fastqc_file = args.fastqc
 fastqscreen_file = args.fastqscreen
-hap_file = args.happy
+#hap_file = args.happy
 
 project_name = args.project_name
 
 
 #########################################
 # variants calling
-with open(hap_file) as hap_json:
-	happy = json.load(hap_json)
-dat =pd.DataFrame.from_records(happy)
-dat = dat.loc[:, dat.columns.str.endswith('ALL')]
-dat_transposed = dat.T
-dat_transposed = dat_transposed.loc[:,['sample_id','QUERY.TOTAL','METRIC.Precision','METRIC.Recall']]
-indel = dat_transposed[['INDEL' in s for s in dat_transposed.index]]
-snv = dat_transposed[['SNP' in s for s in dat_transposed.index]]
-indel.reset_index(drop=True, inplace=True)
-snv.reset_index(drop=True, inplace=True)
-benchmark = pd.concat([snv, indel], axis=1)
-benchmark = benchmark[["sample_id", 'QUERY.TOTAL', 'METRIC.Precision', 'METRIC.Recall']]
-benchmark.columns = ['Sample','sample_id','SNV number','INDEL number','SNV precision','INDEL precision','SNV recall','INDEL recall']
-benchmark = benchmark[['Sample','SNV number','INDEL number','SNV precision','INDEL precision','SNV recall','INDEL recall']]
-benchmark['SNV precision'] = benchmark['SNV precision'].astype(float)
-benchmark['INDEL precision'] = benchmark['INDEL precision'].astype(float)
-benchmark['SNV recall'] = benchmark['SNV recall'].astype(float)
-benchmark['INDEL recall'] = benchmark['INDEL recall'].astype(float)
-benchmark['SNV precision'] = benchmark['SNV precision'] * 100
-benchmark['INDEL precision'] = benchmark['INDEL precision'] * 100
-benchmark['SNV recall'] = benchmark['SNV recall'] * 100
-benchmark['INDEL recall'] = benchmark['INDEL recall']* 100
-benchmark = benchmark.round(2)
-benchmark.to_csv('variants.calling.qc.txt',sep="\t",index=0)
-
-all_rep = [x.split('_')[6] for x in benchmark['Sample']]
-if all_rep.count(all_rep[0]) == 4:
-	rep = list(set(all_rep))
-	columns = ['Family','Average Precision','Average Recall','Precison SD','Recall SD']
-	df_ = pd.DataFrame(columns=columns)
-	for i in rep:
-		string = "_" + i + "_"
-		sub_dat = benchmark[benchmark['Sample'].str.contains('_1_')]
-		mean = list(sub_dat.mean(axis = 0, skipna = True))
-		sd = list(sub_dat.std(axis = 0, skipna = True))
-		family_name = project_name + "." + i + ".SNV"
-		df_ = df_.append({'Family': family_name, 'Average Precision': mean[0], 'Average Recall': mean[2], 'Precison SD': sd[0], 'Recall SD': sd[2] }, ignore_index=True)
-		family_name = project_name + "." + i + ".INDEL"
-		df_ = df_.append({'Family': family_name, 'Average Precision': mean[1], 'Average Recall': mean[3], 'Precison SD': sd[1], 'Recall SD': sd[3] }, ignore_index=True)
-	df_ = df_.round(2)
-	df_.to_csv('precision.recall.txt',sep="\t",index=0)
-else:
-	pass
+#with open(hap_file) as hap_json:
+#	happy = json.load(hap_json)
+#dat =pd.DataFrame.from_records(happy)
+#dat = dat.loc[:, dat.columns.str.endswith('ALL')]
+#dat_transposed = dat.T
+#dat_transposed = dat_transposed.loc[:,['sample_id','QUERY.TOTAL','METRIC.Precision','METRIC.Recall']]
+#indel = dat_transposed[['INDEL' in s for s in dat_transposed.index]]
+#snv = dat_transposed[['SNP' in s for s in dat_transposed.index]]
+#indel.reset_index(drop=True, inplace=True)
+#snv.reset_index(drop=True, inplace=True)
+#benchmark = pd.concat([snv, indel], axis=1)
+#benchmark = benchmark[["sample_id", 'QUERY.TOTAL', 'METRIC.Precision', 'METRIC.Recall']]
+#benchmark.columns = ['Sample','sample_id','SNV number','INDEL number','SNV precision','INDEL precision','SNV recall','INDEL recall']
+#benchmark = benchmark[['Sample','SNV number','INDEL number','SNV precision','INDEL precision','SNV recall','INDEL recall']]
+#benchmark['SNV precision'] = benchmark['SNV precision'].astype(float)
+#benchmark['INDEL precision'] = benchmark['INDEL precision'].astype(float)
+#benchmark['SNV recall'] = benchmark['SNV recall'].astype(float)
+#benchmark['INDEL recall'] = benchmark['INDEL recall'].astype(float)
+#benchmark['SNV precision'] = benchmark['SNV precision'] * 100
+#benchmark['INDEL precision'] = benchmark['INDEL precision'] * 100
+#benchmark['SNV recall'] = benchmark['SNV recall'] * 100
+#benchmark['INDEL recall'] = benchmark['INDEL recall']* 100
+#benchmark = benchmark.round(2)
+#benchmark.to_csv('variants.calling.qc.txt',sep="\t",index=0)
+
+#all_rep = [x.split('_')[6] for x in benchmark['Sample']]
+#if all_rep.count(all_rep[0]) == 4:
+#	rep = list(set(all_rep))
+#	columns = ['Family','Average Precision','Average Recall','Precison SD','Recall SD']
+#	df_ = pd.DataFrame(columns=columns)
+#	for i in rep:
+#		string = "_" + i + "_"
+#		sub_dat = benchmark[benchmark['Sample'].str.contains('_1_')]
+#		mean = list(sub_dat.mean(axis = 0, skipna = True))
+#		sd = list(sub_dat.std(axis = 0, skipna = True))
+#		family_name = project_name + "." + i + ".SNV"
+#		df_ = df_.append({'Family': family_name, 'Average Precision': mean[0], 'Average Recall': mean[2], 'Precison SD': sd[0], 'Recall SD': sd[2] }, ignore_index=True)
+#		family_name = project_name + "." + i + ".INDEL"
+#		df_ = df_.append({'Family': family_name, 'Average Precision': mean[1], 'Average Recall': mean[3], 'Precison SD': sd[1], 'Recall SD': sd[3] }, ignore_index=True)
+#	df_ = df_.round(2)
+#	df_.to_csv('precision.recall.txt',sep="\t",index=0)
+#else:
+#	pass
 
 
 

defaults

   "dbsnp": "dbsnp_146.hg38.vcf",
   "MENDELIANdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
   "DIYdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/high_confidence_call_manuscript:v1.4",
-  "ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/"
+  "ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
+  "sdf": "oss://pgx-reference-data/GRCh38.d1.vd1/GRCh38.d1.vd1.sdf/"
 }

inputs

   "{{ project_name }}.dbmills_dir": "{{ dbmills_dir }}",
   "{{ project_name }}.BIGcluster_config": "{{ BIGcluster_config }}",
   "{{ project_name }}.fastq_screen_conf": "{{ fastq_screen_conf }}",
+  "{{ project_name }}.sdf": "{{ sdf }}",
   "{{ project_name }}.FASTQSCREENdocker": "{{ FASTQSCREENdocker }}",
   "{{ project_name }}.SENTIEONdocker": "{{ SENTIEONdocker }}",
   "{{ project_name }}.QUALIMAPdocker": "{{ QUALIMAPdocker }}",

tasks/benchmark.wdl

 task benchmark {
 	File vcf
 	File benchmarking_dir
-	File ref_dir
+	File sdf
+	String project
 	String sample = basename(vcf,".splited.vcf")
-	String fasta
 	String docker
 	String cluster_config
 	String disk_size
 
-
 	command <<<
 		set -o pipefail
 		set -e
 		nt=$(nproc)
 		mkdir -p /cromwell_root/tmp
-		cp -r ${ref_dir} /cromwell_root/tmp/
-
-		export HGREF=/cromwell_root/tmp/reference_data/GRCh38.d1.vd1.fa
+		cp -r ${benchmarking_dir} /cromwell_root/tmp/
 
 		cat ${vcf} | grep '#' > header
 		cat ${vcf} | grep -v '#' | grep -v '0/0' | grep -v '\./\.'| awk '
 		/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg bgzip filtered.vcf -c > ${sample}.rtg.vcf.gz
 		/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg index -f vcf ${sample}.rtg.vcf.gz
 
+		/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcffilter -i ${project}.${sample}.rtg.vcf.gz -o ${sample}.rtg.SNV.vcf.gz --snps-only
+		/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcffilter -i ${project}.${sample}.rtg.vcf.gz -o ${sample}.rtg.INDEL.vcf.gz --non-snps-only
+
 		if [[ ${sample} =~ "LCL5" ]];then
-			/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL5.high.confidence.calls.vcf.gz ${sample}.rtg.vcf.gz -f ${benchmarking_dir}/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL5.high.confidence.calls.SNV.vcf.gz -c ${sample}.rtg.SNV.vcf.gz -o ${sample}_SNV -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL5.high.confidence.calls.INDEL.vcf.gz -c ${sample}.rtg.INDEL.vcf.gz -o ${sample}_INDEL -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
 	    elif [[ ${sample} =~ "LCL6" ]]; then
-	    	/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL6.high.confidence.calls.vcf.gz ${sample}.rtg.vcf.gz -f ${benchmarking_dir}/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL6.high.confidence.calls.SNV.vcf.gz -c ${sample}.rtg.SNV.vcf.gz -o ${sample}_SNV -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL6.high.confidence.calls.INDEL.vcf.gz -c ${sample}.rtg.INDEL.vcf.gz -o ${sample}_INDEL -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
         elif [[ ${sample} =~ "LCL7" ]]; then
-        	/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL7.high.confidence.calls.vcf.gz ${sample}.rtg.vcf.gz -f ${benchmarking_dir}/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL7.high.confidence.calls.SNV.vcf.gz -c ${sample}.rtg.SNV.vcf.gz -o ${sample}_SNV -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL7.high.confidence.calls.INDEL.vcf.gz -c ${sample}.rtg.INDEL.vcf.gz -o ${sample}_INDEL -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
 	    elif [[ ${sample} =~ "LCL8" ]]; then
-			/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL8.high.confidence.calls.vcf.gz ${sample}.rtg.vcf.gz -f ${benchmarking_dir}/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL8.high.confidence.calls.SNV.vcf.gz -c ${sample}.rtg.SNV.vcf.gz -o ${sample}_SNV -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
+			/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfeval -b /cromwell_root/tmp/reference_datasets_v202103/LCL8.high.confidence.calls.INDEL.vcf.gz -c ${sample}.rtg.INDEL.vcf.gz -o ${sample}_INDEL -t ${sdf} --evaluation-regions=/cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed
         else
         	echo "only for quartet samples"
         fi		
+
+        cat ${sample}_SNV/summary.txt > ${project}.${sample}_SNV_precision_recall.txt
+        cat ${sample}_INDEL/summary.txt > ${project}.${sample}_INDEL_precision_recall.txt
+
 	>>>
 
 	runtime {
 	}
 
 	output {
-		File rtg_vcf = "${sample}.rtg.vcf.gz"
-		File rtg_vcf_index = "${sample}.rtg.vcf.gz.tbi"
-		File gzip_vcf = "${sample}.vcf.gz"
-		File gzip_vcf_index = "${sample}.vcf.gz.tbi"
-		File roc_all_csv = "${sample}.roc.all.csv.gz"
-		File roc_indel = "${sample}.roc.Locations.INDEL.csv.gz"
-		File roc_indel_pass = "${sample}.roc.Locations.INDEL.PASS.csv.gz"
-		File roc_snp = "${sample}.roc.Locations.SNP.csv.gz"
-		File roc_snp_pass = "${sample}.roc.Locations.SNP.PASS.csv.gz"
-		File summary = "${sample}.summary.csv"
-		File extended = "${sample}.extended.csv"
-		File metrics = "${sample}.metrics.json.gz"
+		File rtg_vcf = "${project}.${sample}.rtg.vcf.gz"
+		File rtg_vcf_index = "${project}.${sample}.rtg.vcf.gz.tbi"
+		File SNV_result = "${project}.${sample}_SNV_precision_recall.txt"
+		File Indel_result = "${project}.${sample}_INDEL_precision_recall.txt"
 	}
 }

tasks/extract_tables.wdl

 
 	File fastqc
 	File fastqscreen
-	File hap
+
 
 	String project
 	String docker
 
 	command <<<
 
-		python /opt/extract_tables.py -quality ${quality_yield_summary} -depth ${wgs_metrics_summary} -aln ${aln_metrics_summary} -is ${is_metrics_summary} -fastqc ${fastqc} -fastqscreen ${fastqscreen} -hap ${hap} -project ${project}
+		python /opt/extract_tables.py -quality ${quality_yield_summary} -depth ${wgs_metrics_summary} -aln ${aln_metrics_summary} -is ${is_metrics_summary} -fastqc ${fastqc} -fastqscreen ${fastqscreen}  -project ${project}
 
 	>>>
 

tasks/multiqc.wdl

 	Array[File] txt1
 	Array[File] txt2
 
-	Array[File] summary
-
 	String docker
 	String cluster_config
 	String disk_size
 		set -e
 		mkdir -p /cromwell_root/tmp/fastqc
 		mkdir -p /cromwell_root/tmp/fastqscreen
-		mkdir -p /cromwell_root/tmp/benchmark
 
-		cp ${sep=" " summary} /cromwell_root/tmp/benchmark
 		cp ${sep=" " read1_zip} ${sep=" " read2_zip} /cromwell_root/tmp/fastqc
 		cp ${sep=" " txt1} ${sep=" " txt2} /cromwell_root/tmp/fastqscreen
 
 
 		cat multiqc_data/multiqc_general_stats.txt > multiqc_general_stats.txt
 		cat multiqc_data/multiqc_fastq_screen.txt > multiqc_fastq_screen.txt
-		cat multiqc_data/multiqc_happy_data.json > multiqc_happy_data.json
 	
 	>>>
 
 		Array[File] multiqc_txt = glob("multiqc_data/*")
 		File fastqc = "multiqc_general_stats.txt"
 		File fastqscreen = "multiqc_fastq_screen.txt"
-		File hap = "multiqc_happy_data.json"
 	}
 }

tasks/quartet_mendelian.wdl

 		do
 		  cat $i |  sed -n '2,3p' >> mendelian.summary
 		done
-		sed '1i\Family\tReproducibility_D5_D6\tMendelian_Concordance_Quartet' mendelian.summary > ${project}.mendelian.txt
+		sed '1i\Family\tReproducibility_D5_D6\tMendelian_Concordance_Quartet' mendelian.summary > mendelian.txt
 
 	>>>
 

workflow.wdl

 	String db_mills
 	File dbsnp_dir
 	String dbsnp
+	File sdf
 
 	File screen_ref_dir
 	File fastq_screen_conf
 			input:
 			vcf=single_gvcf[idx],
 			benchmarking_dir=benchmarking_dir,
-			ref_dir=ref_dir,
-			fasta=fasta,
+			sdf=sdf,
+			project=project,
 			docker=BENCHMARKdocker,
 			cluster_config=BIGcluster_config,
 			disk_size=disk_size,
 		read2_zip=fastqc.read2_zip,
 		txt1=fastqscreen.txt1,
 		txt2=fastqscreen.txt2,
-		summary=benchmark.summary,
 		docker=MULTIQCdocker,
 		cluster_config=SMALLcluster_config,
 		disk_size=disk_size
 		is_metrics_summary=merge_sentieon_metrics.is_metrics_summary,
 		fastqc=multiqc.fastqc,
 		fastqscreen=multiqc.fastqscreen,
-		hap=multiqc.hap,
 		project=project,
 		docker=DIYdocker,
 		cluster_config=SMALLcluster_config,