SnpEff 2.0.5 support. Re-enabled SnpEff in the HybridSelectionPipeline.
For now, we recommend only running with the GRCh37.64 database.
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parent
f3f01da1af
commit
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2
ivy.xml
2
ivy.xml
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@ -76,7 +76,7 @@
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<dependency org="org.apache.poi" name="poi-ooxml" rev="3.8-beta3" />
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<!-- snpEff annotator for pipelines -->
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<dependency org="net.sf.snpeff" name="snpeff" rev="2.0.4rc3" />
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<dependency org="net.sf.snpeff" name="snpeff" rev="2.0.5" />
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<!-- Exclude dependencies on sun libraries where the downloads aren't available but included in the jvm. -->
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<exclude org="javax.servlet" />
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@ -56,7 +56,7 @@ public class SnpEff extends InfoFieldAnnotation implements RodRequiringAnnotatio
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// We refuse to parse SnpEff output files generated by unsupported versions, or
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// lacking a SnpEff version number in the VCF header:
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public static final String[] SUPPORTED_SNPEFF_VERSIONS = { "2.0.4" };
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public static final String[] SUPPORTED_SNPEFF_VERSIONS = { "2.0.5" };
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public static final String SNPEFF_VCF_HEADER_VERSION_LINE_KEY = "SnpEffVersion";
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public static final String SNPEFF_VCF_HEADER_COMMAND_LINE_KEY = "SnpEffCmd";
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@ -204,11 +204,6 @@ public class SnpEff extends InfoFieldAnnotation implements RodRequiringAnnotatio
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}
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public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit, Set<VCFHeaderLine> headerLines ) {
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throw new UserException("SnpEff support is currently disabled in the GATK until SnpEff 2.0.4 is officially released " +
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"due to a serious issue with SnpEff versions prior to 2.0.4. Please see this page for more details: " +
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"http://www.broadinstitute.org/gsa/wiki/index.php/Adding_Genomic_Annotations_Using_SnpEff_and_VariantAnnotator");
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/*
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// Make sure that we actually have a valid SnpEff rod binding (just in case the user specified -A SnpEff
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// without providing a SnpEff rod via --snpEffFile):
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validateRodBinding(walker.getSnpEffRodBinding());
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@ -228,7 +223,6 @@ public class SnpEff extends InfoFieldAnnotation implements RodRequiringAnnotatio
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// mistaken in the future for a SnpEff output file:
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headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_VERSION_LINE_KEY, snpEffVersionLine.getValue()));
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headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_COMMAND_LINE_KEY, snpEffCommandLine.getValue()));
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*/
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}
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public Map<String, Object> annotate ( RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc ) {
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@ -145,19 +145,19 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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}
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}
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@Test(enabled = false)
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@Test
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public void testSnpEffAnnotations() {
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WalkerTestSpec spec = new WalkerTestSpec(
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"-T VariantAnnotator -R " + hg19Reference + " -NO_HEADER -o %s -A SnpEff --variant " +
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validationDataLocation + "1kg_exomes_unfiltered.AFR.unfiltered.vcf --snpEffFile " + validationDataLocation +
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"snpEff2.0.4.AFR.unfiltered.vcf -L 1:1-1,500,000 -L 2:232,325,429",
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"snpEff2.0.5.AFR.unfiltered.vcf -L 1:1-1,500,000 -L 2:232,325,429",
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1,
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Arrays.asList("51258f5c880bd1ca3eb45a1711335c66")
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Arrays.asList("ffbda45b3682c9b83cb541d83f6c15d6")
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);
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executeTest("Testing SnpEff annotations", spec);
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}
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@Test(enabled = false)
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@Test
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public void testSnpEffAnnotationsUnsupportedVersion() {
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WalkerTestSpec spec = new WalkerTestSpec(
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"-T VariantAnnotator -R " + hg19Reference + " -NO_HEADER -o %s -A SnpEff --variant " +
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@ -298,7 +298,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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executeTest("test MultiSample Phase1 indels with complicated records", spec4);
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}
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@Test(enabled = false)
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@Test
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public void testSnpEffAnnotationRequestedWithoutRodBinding() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000 " +
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@ -14,19 +14,19 @@ public class VariantEvalIntegrationTest extends WalkerTest {
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private static String cmdRoot = "-T VariantEval" +
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" -R " + b36KGReference;
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@Test(enabled = false)
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@Test
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public void testFunctionClassWithSnpeff() {
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WalkerTestSpec spec = new WalkerTestSpec(
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buildCommandLine(
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"-T VariantEval",
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"-R " + b37KGReference,
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"--dbsnp " + b37dbSNP132,
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"--eval " + validationDataLocation + "snpEff2.0.4.AFR.unfiltered.VariantAnnotator.output.vcf",
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"--eval " + validationDataLocation + "snpEff2.0.5.AFR.unfiltered.VariantAnnotator.output.vcf",
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"-noEV",
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"-EV TiTvVariantEvaluator",
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"-noST",
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"-ST FunctionalClass",
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"-L " + validationDataLocation + "snpEff2.0.4.AFR.unfiltered.VariantAnnotator.output.vcf",
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"-L " + validationDataLocation + "snpEff2.0.5.AFR.unfiltered.VariantAnnotator.output.vcf",
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"-o %s"
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),
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1,
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Binary file not shown.
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@ -1,3 +1,3 @@
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<ivy-module version="1.0">
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<info organisation="net.sf.snpeff" module="snpeff" revision="2.0.4rc3" status="release" />
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<info organisation="net.sf.snpeff" module="snpeff" revision="2.0.5" status="release" />
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</ivy-module>
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