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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

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  2. Tool Index
  3. 4.0.1.0

4.0.1.0

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Tool documentation for GATK release 4.0.1.0

  • CombineGVCFs
    Merges one or more HaplotypeCaller GVCF files into a single GVCF with a...
  • CombineSegmentBreakpoints (EXPERIMENTAL)
    Combine the breakpoints of two segment files and annotate the resulting...
  • CompareBaseQualities
    Compares the base qualities of two SAM/BAM/CRAM files Category ...
  • CompareDuplicatesSpark (BETA)
    Determine if two potentially identical BAMs have the same duplicate rea...
  • CompareMetrics (Picard)
    Compare two metrics files.This tool compares the metrics and histograms...
  • CompareSAMs (Picard)
    Compare two input ".sam" or ".bam" files. This tool initially compares...
  • Concordance (BETA)
    Evaluate concordance of an input VCF against a validated truth VCF ...
  • ConvertHeaderlessHadoopBamShardToBam (BETA)
    Convert a headerless BAM shard into a readable BAM Category Re...
  • ConvertSequencingArtifactToOxoG (Picard)
    Extract OxoG metrics from generalized artifacts metrics. This tool ext...
  • CountBases
    Count bases in a SAM/BAM/CRAM file Category Coverage Analysis ...
  • CountBasesInReference
    Count the numbers of each base in a reference file Category Re...
  • CountBasesSpark (BETA)
    Counts bases in the input SAM/BAM Category Coverage Analysis ...
  • CountFalsePositives (BETA)
    Count PASS variants Category Variant Evaluation and Refinement...
  • CountNs
    Number of Ns at the pileup Category Variant Annotations ...
  • CountReads
    Count reads in a SAM/BAM/CRAM file Category Coverage Analysis ...
  • CountReadsSpark (BETA)
    Counts reads in the input SAM/BAM Category Coverage Analysis ...
  • CountVariants
    Counts variant records in a VCF file, regardless of filter status. ...
  • CountVariantsSpark (BETA)
    CountVariants on Spark Category Variant Evaluation and Refinem...
  • Coverage
    Total depth of coverage per sample and over all samples (DP) Catego...
  • CpxVariantReInterpreterSpark (BETA)
    (Internal) Tries to extract simple variants from a provided GATK-SV CPX...
  • CreateHadoopBamSplittingIndex (BETA)
    Create a Hadoop BAM splitting index Category Other Ov...
  • CreateReadCountPanelOfNormals (BETA)
    Creates a panel of normals for read-count denoising Category C...
  • CreateSequenceDictionary (Picard)
    Creates a sequence dictionary for a reference sequence. This tool crea...
  • CreateSomaticPanelOfNormals (BETA)
    Make a panel of normals for use with Mutect2 Category Variant ...
  • CreateVerifyIDIntensityContaminationMetricsFile (Picard)
    CreateVerifyIDIntensityContaminationMetricsFile takes an output file as...
  • CrosscheckFingerprints (Picard)
    Checks that all data in the set of input files appear to come from the ...
  • CrosscheckReadGroupFingerprints (Picard)
    DEPRECATED: USE CrosscheckFingerprints. Checks if all read groups withi...
  • DenoiseReadCounts (BETA)
    Denoises read counts to produce denoised copy ratios Category ...
  • DepthPerAlleleBySample
    Depth of coverage of each allele per sample (AD) Category Vari...
  • DepthPerSampleHC
    Depth of informative coverage for each sample (DP) Category Va...
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