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Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

VariantRecalibrator throwing VariantRecalibratorEngine - Evaluate datum returned a NaN warning then crashing with empty tranches file.

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    David Murphy

    Trying to rule out various possibilities I removed a few outlier samples that I thought might be the issue with extremely low reads but it had no effect and I continued to get the same error.

    This is the end of the log with "debug" level verbosity.

    Bizarely the tool seems to be getting  a Cache hit rate of 0.00%

    16:06:28.731 INFO VariantRecalibratorEngine - Convergence after 71 iterations!
    16:06:30.208 INFO VariantRecalibratorEngine - Evaluating full set of 598837 variants...
    16:06:30.208 WARN VariantRecalibratorEngine - Evaluate datum returned a NaN.
    16:06:30.250 INFO VariantDataManager - Selected worst 0 scoring variants --> variants with LOD <= -5.0000.
    16:06:30.303 INFO VariantRecalibrator - Shutting down engine
    16:06:30.307 DEBUG FeatureDataSource - Cache statistics for FeatureInput hapmap:/hades/dmurphy/bwapipeline/ref/gatkresourcebundle/resources_broad_hg38_v0_hapmap_3.3.hg38.vcf.gz:
    16:06:30.307 DEBUG FeatureCache - Cache hit rate was 97.54% (584103 out of 598837 total queries)
    16:06:30.308 DEBUG FeatureDataSource - Cache statistics for FeatureInput omni:/hades/dmurphy/bwapipeline/ref/gatkresourcebundle/resources_broad_hg38_v0_1000G_omni2.5.hg38.vcf.gz:
    16:06:30.308 DEBUG FeatureCache - Cache hit rate was 97.54% (584103 out of 598837 total queries)
    16:06:30.308 DEBUG FeatureDataSource - Cache statistics for FeatureInput 1000G:/hades/dmurphy/bwapipeline/ref/gatkresourcebundle/resources_broad_hg38_v0_1000G_phase1.snps.high_confidence.hg38.vcf.gz:
    16:06:30.308 DEBUG FeatureCache - Cache hit rate was 97.54% (584103 out of 598837 total queries)
    16:06:30.308 DEBUG FeatureDataSource - Cache statistics for FeatureInput dbsnp:/hades/dmurphy/bwapipeline/ref/gatkresourcebundle/resources_broad_hg38_v0_Homo_sapiens_assembly38.dbsnp138.vcf:
    16:06:30.309 DEBUG FeatureCache - Cache hit rate was 97.54% (584103 out of 598837 total queries)
    16:06:30.309 DEBUG FeatureDataSource - Cache statistics for FeatureInput /mnt/qsg-results/inprogress/section_50_extract.norm.vcf.gz:
    16:06:30.309 DEBUG FeatureCache - Cache hit rate was 0.00% (0 out of 0 total queries)
    16:06:30.311 DEBUG FeatureDataSource - Cache statistics for FeatureInput /mnt/qsg-results/inprogress/section_50_extract.norm.vcf.gz:
    16:06:30.311 DEBUG FeatureCache - Cache hit rate was 0.00% (0 out of 0 total queries)
    [02 June 2020 16:06:30 BST] org.broadinstitute.hellbender.tools.walkers.vqsr.VariantRecalibrator done. Elapsed time: 17.92 minutes.
    Runtime.totalMemory()=5602017280
    java.lang.IllegalArgumentException: No data found.
    at org.broadinstitute.hellbender.tools.walkers.vqsr.VariantRecalibratorEngine.generateModel(VariantRecalibratorEngine.java:34)
    at org.broadinstitute.hellbender.tools.walkers.vqsr.VariantRecalibrator.onTraversalSuccess(VariantRecalibrator.java:655)
    at org.broadinstitute.hellbender.engine.GATKTool.doWork(GATKTool.java:1050)
    at org.broadinstitute.hellbender.cmdline.CommandLineProgram.runTool(CommandLineProgram.java:139)
    at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMainPostParseArgs(CommandLineProgram.java:191)
    at org.broadinstitute.hellbender.cmdline.CommandLineProgram.instanceMain(CommandLineProgram.java:210)
    at org.broadinstitute.hellbender.Main.runCommandLineProgram(Main.java:163)
    at org.broadinstitute.hellbender.Main.mainEntry(Main.java:206)
    at org.broadinstitute.hellbender.Main.main(Main.java:292)

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  • Avatar
    Bhanu Gandham

    Hi,

     

    The reason you see this issue is because VariantRecalibrator is unable to create a negative model. Try to reduce number of gaussian. Decreases in increments of 1 or 2. Reducing gaussian will solve that problem. Use this argument to change the default value (8) --max-gaussians

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