diff --git a/build.xml b/build.xml index beca6bce0..e5ad9daf0 100644 --- a/build.xml +++ b/build.xml @@ -821,6 +821,7 @@ + @@ -828,10 +829,6 @@ - - - - @@ -841,10 +838,10 @@ - + - - - + + - + + + + + + + + + + + + + - + @@ -909,7 +918,7 @@ - + @@ -917,7 +926,7 @@ - + @@ -925,7 +934,7 @@ - + @@ -934,24 +943,24 @@ - + - + - + - + - + diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java index 35ff66243..018c4dcc2 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java @@ -145,10 +145,9 @@ import java.util.*; * -R ref.fasta \ * -T SelectVariants \ * --variant input.vcf \ - * -o output.vcf \ - * -SM family.yaml \ * -family NA12891+NA12892=NA12878 \ - * -mvq 50 + * -mvq 50 \ + * -o violations.vcf * * Creating a sample of exactly 1000 variants randomly chosen with equal probability from the variant VCF: * java -Xmx2g -jar GenomeAnalysisTK.jar \ @@ -265,17 +264,17 @@ public class SelectVariants extends RodWalker { private File AF_FILE = new File(""); @Hidden - @Argument(fullName="family_structure_file", shortName="familyFile", doc="USE YAML FILE INSTEAD (-SM) !!! string formatted as dad+mom=child where these parameters determine which sample names are examined", required=false) + @Argument(fullName="family_structure_file", shortName="familyFile", doc="use -family unless you know what you're doing", required=false) private File FAMILY_STRUCTURE_FILE = null; /** * String formatted as dad+mom=child where these parameters determine which sample names are examined. */ - @Argument(fullName="family_structure", shortName="family", doc="Deprecated; use the -SM argument instead", required=false) + @Argument(fullName="family_structure", shortName="family", doc="string formatted as dad+mom=child where these parameters determine which sample names are examined", required=false) private String FAMILY_STRUCTURE = ""; /** - * Sample metadata information will be taken from a YAML file (see the -SM argument). + * This activates the mendelian violation module that will select all variants that correspond to a mendelian violation following the rules given by the family structure. */ @Argument(fullName="mendelianViolation", shortName="mv", doc="output mendelian violation sites only", required=false) private Boolean MENDELIAN_VIOLATIONS = false; @@ -306,7 +305,7 @@ public class SelectVariants extends RodWalker { @Hidden - @Argument(fullName="outMVFile", shortName="outMVFile", doc="USE YAML FILE INSTEAD (-SM) !!! string formatted as dad+mom=child where these parameters determine which sample names are examined", required=false) + @Argument(fullName="outMVFile", shortName="outMVFile", doc="", required=false) private String outMVFile = null; /* Private class used to store the intermediate variants in the integer random selection process */ diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java index 2c7902914..fdfca982c 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java @@ -56,11 +56,6 @@ import java.util.Set; * A variant set to filter. *

* - *

Output

- *

- * A filtered VCF. - *

- * *

Examples

* 
  * java -Xmx2g -jar GenomeAnalysisTK.jar \
diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java
index 699133e38..1c65102ae 100755
--- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java
+++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java
@@ -1085,14 +1085,15 @@ public class VariantContext implements Feature { // to enable tribble intergrati
     }
 
     public void validateReferenceBases(Allele reference, Byte paddedRefBase) {
-        // don't validate if we're an insertion or complex event
-        if ( !reference.isNull() && getReference().length() == 1 && !reference.basesMatch(getReference()) ) {
-            throw new TribbleException.InternalCodecException(String.format("the REF allele is incorrect for the record at position %s:%d, %s vs. %s", getChr(), getStart(), reference.getBaseString(), getReference().getBaseString()));
+        // don't validate if we're a complex event
+        if ( !isComplexIndel() && !reference.isNull() && !reference.basesMatch(getReference()) ) {
+            throw new TribbleException.InternalCodecException(String.format("the REF allele is incorrect for the record at position %s:%d, fasta says %s vs. VCF says %s", getChr(), getStart(), reference.getBaseString(), getReference().getBaseString()));
         }
 
         // we also need to validate the padding base for simple indels
-        if ( hasReferenceBaseForIndel() && !getReferenceBaseForIndel().equals(paddedRefBase) )
-            throw new TribbleException.InternalCodecException(String.format("the padded REF base is incorrect for the record at position %s:%d, %s vs. %s", getChr(), getStart(), (char)getReferenceBaseForIndel().byteValue(), (char)paddedRefBase.byteValue()));
+        if ( hasReferenceBaseForIndel() && !getReferenceBaseForIndel().equals(paddedRefBase) ) {
+            throw new TribbleException.InternalCodecException(String.format("the padded REF base is incorrect for the record at position %s:%d, fasta says %s vs. VCF says %s", getChr(), getStart(), (char)paddedRefBase.byteValue(), (char)getReferenceBaseForIndel().byteValue()));
+        }
     }
 
     public void validateRSIDs(Set rsIDs) {
diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java
index f94c20ff6..e992684bc 100755
--- a/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java
+++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java
@@ -256,7 +256,7 @@ public class VariantEvalIntegrationTest extends WalkerTest {
                 " --eval " + validationDataLocation + "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.vcf" +
                 " --comp:comp_genotypes,VCF3 " + validationDataLocation + "yri.trio.gatk.ug.head.vcf";
         WalkerTestSpec spec = new WalkerTestSpec(withSelect(tests, "DP < 50", "DP50") + " " + extraArgs + " -ST CpG -o %s",
-                1, Arrays.asList("2df4f8911ffc3c8d042298723ed465f8"));
+                1, Arrays.asList("f70997b6a3e7fdc89d11e1d61a2463d4"));
         executeTestParallel("testSelect1", spec);
     }
 
@@ -273,7 +273,7 @@ public class VariantEvalIntegrationTest extends WalkerTest {
     @Test
     public void testCompVsEvalAC() {
         String extraArgs = "-T VariantEval -R "+b36KGReference+" -o %s -ST CpG -EV GenotypeConcordance --eval:evalYRI,VCF3 " + validationDataLocation + "yri.trio.gatk.ug.very.few.lines.vcf --comp:compYRI,VCF3 " + validationDataLocation + "yri.trio.gatk.fake.genotypes.ac.test.vcf";
-        WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("ed54aa127b173d8ad8b6482f2a929a42"));
+        WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("407682de41dcf139ea635e9cda21b912"));
         executeTestParallel("testCompVsEvalAC",spec);
     }
 
@@ -303,7 +303,7 @@ public class VariantEvalIntegrationTest extends WalkerTest {
                            " --dbsnp " + b37dbSNP132 +
                            " --eval:evalBI " + validationDataLocation + "VariantEval/ALL.20100201.chr20.bi.sites.vcf" +
                            " -noST -ST Novelty -o %s";
-        WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("18c44636e36d6657110bf984f8eac181"));
+        WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("424c9d438b1faa59b2c29413ba32f37b"));
         executeTestParallel("testEvalTrackWithoutGenotypes",spec);
     }
 
@@ -315,7 +315,7 @@ public class VariantEvalIntegrationTest extends WalkerTest {
                 " --eval:evalBI " + validationDataLocation + "VariantEval/ALL.20100201.chr20.bi.sites.vcf" +
                 " --eval:evalBC " + validationDataLocation + "VariantEval/ALL.20100201.chr20.bc.sites.vcf" +
                 " -noST -ST Novelty -o %s";
-        WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("1b8ae4fd10de0888bd843f833859d990"));
+        WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("18fa0b89ebfff51141975d7e4ce7a159"));
         executeTestParallel("testMultipleEvalTracksWithoutGenotypes",spec);
     }
 
diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java
index 3801e132d..00044f859 100644
--- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java
+++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java
@@ -98,7 +98,7 @@ public class VCFStreamingIntegrationTest extends WalkerTest {
             " -EV CompOverlap -noEV -noST" +
             " -o %s",
             1,
-            Arrays.asList("ea09bf764adba9765b99921c5ba2c709")
+            Arrays.asList("d46a735ffa898f4aa6b3758c5b03f06d")
         );
         executeTest("testVCFStreamingChain", selectTestSpec);
 
diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java
index adf3b21a8..5f71f82fd 100755
--- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java
+++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java
@@ -113,4 +113,16 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
 
         executeTest("test bad alt allele", spec);
     }
+
+    @Test
+    public void testBadAllele2() {
+        WalkerTestSpec spec = new WalkerTestSpec(
+            baseTestString("validationExampleBad3.vcf", "REF"),
+            0,
+            UserException.MalformedFile.class
+        );
+
+        executeTest("test bad ref allele in deletion", spec);
+    }
+
 }
diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala
index 80bfe03d1..17d614290 100755
--- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala
+++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala
@@ -22,8 +22,8 @@ class MethodsDevelopmentCallingPipeline extends QScript {
   @Argument(shortName="noBAQ", doc="turns off BAQ calculation", required=false)
   var noBAQ: Boolean = false
 
-  @Argument(shortName="indels", doc="calls indels with the Unified Genotyper", required=false)
-  var callIndels: Boolean = false
+  @Argument(shortName="noIndels", doc="do not call indels with the Unified Genotyper", required=false)
+  var noIndels: Boolean = false
 
   @Argument(shortName="LOCAL_ET", doc="Doesn't use the AWS S3 storage for ET option", required=false)
   var LOCAL_ET: Boolean = false
@@ -165,7 +165,7 @@ class MethodsDevelopmentCallingPipeline extends QScript {
     val goldStandard = true
     for (target <- targets) {
       if( !skipCalling ) {
-        if (callIndels) add(new indelCall(target), new indelFilter(target), new indelEvaluation(target))
+        if (!noIndels) add(new indelCall(target), new indelFilter(target), new indelEvaluation(target))
         add(new snpCall(target))
         add(new VQSR(target, !goldStandard))
         add(new applyVQSR(target, !goldStandard))