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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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  2. Tool Index
  3. 4.2.3.0

4.2.3.0

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Tool documentation for GATK release 4.2.3.0

  • PathSeqBuildReferenceTaxonomy
    Builds a taxonomy datafile of the microbe reference Categor...
  • PathSeqBwaSpark
    Step 2: Aligns reads to the microbe reference Category ...
  • PathSeqFilterSpark
    Step 1: Filters low quality, low complexity, duplicate, and hos...
  • PathSeqPipelineSpark
    Combined tool that performs all steps: read filtering, microbe ...
  • PathSeqScoreSpark
    Step 3: Classifies pathogen-aligned reads and generates abundan...
  • Pileup
    Prints read alignments in samtools pileup format Category ...
  • PileupSpark (BETA)
    Prints read alignments in samtools pileup format Category ...
  • PlatformReadFilter
    Keep only reads with matching Read Group platform Category ...
  • PlatformUnitReadFilter
    Filter out reads with matching platform unit attribute Cate...
  • PlotDenoisedCopyRatios
    Creates plots of denoised copy ratios Category Copy Nu...
  • PlotModeledSegments
    Creates plots of denoised and segmented copy-ratio and minor-al...
  • PositionBasedDownsampleSam (Picard)
    Summary Class to downsample a SAM/BAM file based on the positio...
  • PossibleDeNovo
    Existence of a de novo mutation in at least one of the given fa...
  • PostprocessGermlineCNVCalls
    Postprocesses the output of GermlineCNVCaller and generates VCF...
  • PreprocessIntervals
    Prepares bins for coverage collection Category Interva...
  • PrimaryLineReadFilter
    Keep only reads representing primary alignments (those that sat...
  • PrintDistantMates
    Unmaps reads with distant mates. Category Read Data Ma...
  • PrintReads
    Print reads in the SAM/BAM/CRAM file Category Read Dat...
  • PrintReadsHeader
    Print the header from a SAM/BAM/CRAM file Category Rea...
  • PrintReadsSpark
    PrintReads on Spark Category Read Data Manipulation ...
  • PrintSVEvidence (EXPERIMENTAL)
    Prints SV evidence records Category Structural Variant...
  • PrintVariantsSpark
    Prints out variants from the input VCF. Category Varia...
  • ProperlyPairedReadFilter
    Keep only reads that are properly paired Category Read...
  • QualByDepth
    Variant confidence normalized by unfiltered depth of variant sa...
  • QualityScoreDistribution (Picard)
    Chart the distribution of quality scores. This tool is used fo...
  • QualityScoreDistributionSpark (BETA)
    QualityScoreDistribution on Spark Category Diagnostics...
  • ReadAnonymizer (EXPERIMENTAL)
    Replace bases in reads with reference bases. Category ...
  • ReadGroupBlackListReadFilter
    Keep records that don't match the specified filter string(s). ...
  • ReadGroupReadFilter
    Keep only reads from the specified read group Category ...
  • ReadLengthEqualsCigarLengthReadFilter
    Filter out reads where the read and CIGAR do not match in leng...
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