Update GvsExtractCallset.example.inputs.json

scripts/variantstore/wdl/GvsExtractCallset.example.inputs.json

@@ -10,7 +10,6 @@
   "GvsExtractCallset.reference_index": "gs://gcp-public-data--broad-references/hg38/v0/Homo_sapiens_assembly38.fasta.fai",
   "GvsExtractCallset.reference_dict": "gs://gcp-public-data--broad-references/hg38/v0/Homo_sapiens_assembly38.dict",
   "GvsExtractCallset.wgs_intervals": "gs://gcp-public-data--broad-references/hg38/v0/wgs_calling_regions.hg38.noCentromeres.noTelomeres.interval_list",
-  "GvsExtractCallset.scatter_count": 50,
+  "GvsExtractCallset.scatter_count": 50
 
-  "GvsExtractCallset.gatk_override": "gs://broad-dsp-spec-ops/scratch/bigquery-jointcalling/jars/mmt_SA_support_and_wdl_renaming_20210415/gatk-package-4.2.0.0-345-g8a7821a-SNAPSHOT-local.jar"
 }

scripts/variantstore/wdl/GvsExtractCallset.wdl

@@ -33,7 +33,7 @@ workflow GvsExtractCallset {
 
         String output_file_base_name
         String? output_gcs_dir
-        File? gatk_override
+        File? gatk_override = "gs://broad-dsp-spec-ops/scratch/bigquery-jointcalling/jars/ah_var_store_20210914/gatk-package-4.2.0.0-406-ga9206a2-SNAPSHOT-local.jar"
         Int local_disk_for_extract = 150
     }
 

scripts/variantstore/wdl/GvsImportGenomes.wdl

@@ -19,7 +19,7 @@ workflow GvsImportGenomes {
     Int batch_size = 1
 
     Int? preemptible_tries
-    File? gatk_override
+    File? gatk_override = "gs://broad-dsp-spec-ops/scratch/bigquery-jointcalling/jars/ah_var_store_20210914/gatk-package-4.2.0.0-406-ga9206a2-SNAPSHOT-local.jar"
     String? docker
   }
 

src/main/java/org/broadinstitute/hellbender/tools/gvs/extract/ExtractCohort.java

@@ -169,7 +169,7 @@ protected static VCFHeader generateVcfHeader(Set<String> sampleNames,
                 VCFConstants.GENOTYPE_QUALITY_KEY
         );
         headerLines.add(GATKVCFHeaderLines.getFormatLine(GATKVCFConstants.REFERENCE_GENOTYPE_QUALITY));
-
+        headerLines.add(GATKVCFHeaderLines.getInfoLine(GATKVCFConstants.EXCESS_HET_KEY));
         headerLines.add(GATKVCFHeaderLines.getInfoLine(GATKVCFConstants.AS_VQS_LOD_KEY));
         headerLines.add(GATKVCFHeaderLines.getInfoLine(GATKVCFConstants.AS_YNG_STATUS_KEY));
 
@@ -222,6 +222,12 @@ protected void onStartup() {
             extraHeaderLines.add(new VCFFormatHeaderLine("FT", 1, VCFHeaderLineType.String, "Genotype Filter Field"));
         }
 
+        if (emitPLs) {
+            VCFStandardHeaderLines.addStandardFormatLines(extraHeaderLines, true,
+                    VCFConstants.GENOTYPE_PL_KEY
+            );
+        }
+
         SampleList sampleList = new SampleList(sampleTableName, sampleFileName, projectID, printDebugInformation, "extract-cohort");
         Map<Long, String> sampleIdToName = sampleList.getMap();
 

src/main/java/org/broadinstitute/hellbender/tools/gvs/extract/ExtractCohortEngine.java

@@ -56,6 +56,7 @@ public class ExtractCohortEngine {
     private final ProgressMeter progressMeter;
     private final String projectID;
     private final CommonCode.ModeEnum mode;
+    private final boolean emitPLs;
 
     /** List of sample names seen in the variant data from BigQuery. */
     private Set<String> sampleNames;
@@ -110,6 +111,7 @@ public ExtractCohortEngine(final String projectID,
         this.sampleIdToName = sampleIdToName;
         this.sampleNames = new HashSet<>(sampleIdToName.values());
         this.mode = mode;
+        this.emitPLs = emitPLs;
 
         this.cohortTableRef = cohortTableName == null || "".equals(cohortTableName) ? null :
                 new TableReference(cohortTableName, emitPLs ? SchemaUtils.COHORT_FIELDS : SchemaUtils.COHORT_FIELDS_NO_PL);
@@ -667,7 +669,7 @@ private VariantContext createVariantContextFromSampleRecord(final ExtractCohortR
         }
 
         final String callPL = sampleRecord.getCallPL();
-        if ( callPL != null ) {
+        if ( this.emitPLs && callPL != null ) {
             genotypeBuilder.PL(Arrays.stream(callPL.split(SchemaUtils.MULTIVALUE_FIELD_DELIMITER)).mapToInt(Integer::parseInt).toArray());
         }
 

src/test/java/org/broadinstitute/hellbender/tools/gvs/extract/ExtractCohortTest.java

@@ -36,7 +36,7 @@ public void testFinalVCFfromAvro() throws Exception {
         .add("local-sort-max-records-in-ram", 10000000)
         .add("cohort-avro-file-name", cohortAvroFileName)
         .add("sample-file", sampleFile)
-        .add("emit-pls", false);
+        .add("emit-pls", true);
 
     runCommandLine(args);
     IntegrationTestSpec.assertEqualTextFiles(outputVCF, expectedVCF);

src/test/resources/org/broadinstitute/hellbender/tools/gvs/extract/ExtractCohort/expected_extract.vcf

@@ -4,40 +4,19 @@
 ##FILTER=<ID=LowQual,Description="Low quality">
 ##FILTER=<ID=NAY,Description="Considered a NAY in the Yay, Nay, Grey table">
 ##FILTER=<ID=NO_HQ_GENOTYPES,Description="Site has no high quality variant genotypes">
-##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
-##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
 ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
-##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another; will always be heterozygous and is not intended to describe called alleles">
-##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group">
 ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
 ##FORMAT=<ID=RGQ,Number=1,Type=Integer,Description="Unconditional reference genotype confidence, encoded as a phred quality -10*log10 p(genotype call is wrong)">
 ##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
 ##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
 ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
-##INFO=<ID=AS_FS,Number=A,Type=Float,Description="allele specific phred-scaled p-value using Fisher's exact test to detect strand bias of each alt allele">
-##INFO=<ID=AS_MQ,Number=A,Type=Float,Description="Allele-specific RMS Mapping Quality">
-##INFO=<ID=AS_MQRankSum,Number=A,Type=Float,Description="Allele-specific Mapping Quality Rank Sum">
-##INFO=<ID=AS_QD,Number=A,Type=Float,Description="Allele-specific Variant Confidence/Quality by Depth">
 ##INFO=<ID=AS_QUALapprox,Number=1,Type=String,Description="Allele-specific QUAL approximations">
-##INFO=<ID=AS_RAW_MQ,Number=1,Type=String,Description="Allele-specfic raw data for RMS Mapping Quality">
-##INFO=<ID=AS_RAW_MQRankSum,Number=1,Type=String,Description="Allele-specfic raw data for Mapping Quality Rank Sum">
-##INFO=<ID=AS_RAW_ReadPosRankSum,Number=1,Type=String,Description="allele specific raw data for rank sum test of read position bias">
-##INFO=<ID=AS_ReadPosRankSum,Number=A,Type=Float,Description="allele specific Z-score from Wilcoxon rank sum test of each Alt vs. Ref read position bias">
-##INFO=<ID=AS_SB_TABLE,Number=1,Type=String,Description="Allele-specific forward/reverse read counts for strand bias tests. Includes the reference and alleles separated by |.">
-##INFO=<ID=AS_SOR,Number=A,Type=Float,Description="Allele specific strand Odds Ratio of 2x|Alts| contingency table to detect allele specific strand bias">
 ##INFO=<ID=AS_VQSLOD,Number=A,Type=String,Description="For each alt allele, the log odds of being a true variant versus being false under the trained gaussian mixture model">
-##INFO=<ID=AS_VarDP,Number=1,Type=String,Description="Allele-specific (informative) depth over variant genotypes -- including ref, RAW format">
 ##INFO=<ID=AS_YNG,Number=A,Type=String,Description="For each alt allele, the yay/nay/grey status (yay are known good alleles, nay are known false positives, grey are unknown)">
-##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
 ##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
 ##INFO=<ID=ExcessHet,Number=1,Type=Float,Description="Phred-scaled p-value for exact test of excess heterozygosity">
-##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
-##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
 ##INFO=<ID=QUALapprox,Number=1,Type=Integer,Description="Sum of PL[0] values; used to approximate the QUAL score">
-##INFO=<ID=SB,Number=1,Type=Float,Description="Strand Bias">
-##INFO=<ID=SB_TABLE,Number=4,Type=Integer,Description="Forward/reverse read counts for strand bias tests">
-##INFO=<ID=VarDP,Number=1,Type=Integer,Description="(informative) depth over variant genotypes">
 ##contig=<ID=chr1,length=248956422,assembly=38>
 ##contig=<ID=chr2,length=242193529,assembly=38>
 ##contig=<ID=chr3,length=198295559,assembly=38>