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Genome Analysis Toolkit

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

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  3. 4.2.4.0

4.2.4.0

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Tool documentation for GATK release 4.2.4.0

  • CollectVariantCallingMetrics (Picard)
    Collects per-sample and aggregate (spanning all samples) metric...
  • CollectWgsMetrics (Picard)
    Collect metrics about coverage and performance of whole genome ...
  • CollectWgsMetricsWithNonZeroCoverage (Picard) (EXPERIMENTAL)
    Collect metrics about coverage and performance of whole genome ...
  • CombineGenotypingArrayVcfs (Picard)
    CombineGenotypingArrayVcfs takes one or more VCF files, as gene...
  • CombineGVCFs
    Merges one or more HaplotypeCaller GVCF files into a single GVC...
  • CompareBaseQualities
    Compares the base qualities of two SAM/BAM/CRAM files Categ...
  • CompareDuplicatesSpark (BETA)
    Determine if two potentially identical BAMs have the same dupli...
  • CompareMetrics (Picard)
    Compare two metrics files.This tool compares the metrics and hi...
  • CompareSAMs (Picard)
    Compare two input ".sam" or ".bam" files. This tool initially ...
  • ComposeSTRTableFile
    Composes a genome-wide STR location table used for DragSTR mode...
  • Concordance
    Evaluate concordance of an input VCF against a validated truth ...
  • ConvertHeaderlessHadoopBamShardToBam (BETA)
    Convert a headerless BAM shard into a readable BAM Category...
  • ConvertSequencingArtifactToOxoG (Picard)
    Extract OxoG metrics from generalized artifacts metrics. This ...
  • CountBases
    Count bases in a SAM/BAM/CRAM file Category Coverage A...
  • CountBasesInReference
    Count the numbers of each base in a reference file Category...
  • CountBasesSpark
    Counts bases in the input SAM/BAM Category Coverage An...
  • CountFalsePositives (BETA)
    Count PASS variants Category Variant Evaluation and Re...
  • CountNs
    Number of Ns at the pileup Category Variant Annotation...
  • CountReads
    Count reads in a SAM/BAM/CRAM file Category Coverage A...
  • CountReadsSpark
    Counts reads in the input SAM/BAM Category Coverage An...
  • CountVariants
    Counts variant records in a VCF file, regardless of filter stat...
  • CountVariantsSpark
    CountVariants on Spark Category Variant Evaluation and...
  • Coverage
    Total depth of coverage per sample and over all samples (DP) ...
  • CpxVariantReInterpreterSpark (BETA)
    (Internal) Tries to extract simple variants from a provided GAT...
  • CreateBafRegressMetricsFile (Picard)
    CreateBafRegressMetricsFile takes an output file as generated b...
  • CreateHadoopBamSplittingIndex (BETA)
    Create a Hadoop BAM splitting index Category Other ...
  • CreateReadCountPanelOfNormals
    Creates a panel of normals for read-count denoising Categor...
  • CreateSequenceDictionary (Picard)
    Creates a sequence dictionary for a reference sequence. This t...
  • CreateSomaticPanelOfNormals (BETA)
    Make a panel of normals for use with Mutect2 Category ...
  • CreateVerifyIDIntensityContaminationMetricsFile (Picard)
    CreateVerifyIDIntensityContaminationMetricsFile takes an output...
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