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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. 4.0.5.0

4.0.5.0

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Tool documentation for GATK release 4.0.5.0

  • MergeVcfs (Picard)
    Combines multiple variant files into a single variant file.Inpu...
  • MethylationTypeCaller (EXPERIMENTAL)
    Identify methylated bases from bisulfite sequenced, methylation...
  • MetricsReadFilter
    Filter out reads that fail platform quality checks, are unmappe...
  • ModelSegments (BETA)
    Models segmented copy ratios from denoised read counts and segm...
  • Mutect2
    Call somatic SNVs and indels via local assembly of haplotypes ...
  • NonChimericOriginalAlignmentReadFilter
    Filters reads whose original alignment was chimeric. Catego...
  • NonNFastaSize (Picard)
    Counts the number of non-N bases in a fasta file.This tool take...
  • NonZeroFragmentLengthReadFilter
    Filter out reads with fragment length different from zero C...
  • NonZeroReferenceLengthAlignmentReadFilter
    Filter out reads that do not align to the reference Categor...
  • NormalizeFasta (Picard)
    Normalizes lines of sequence in a FASTA file to be of the same ...
  • NotDuplicateReadFilter
    Filter out reads marked as duplicate Category Read Fil...
  • NotSecondaryAlignmentReadFilter
    Filter out reads representing secondary alignments Category...
  • NotSupplementaryAlignmentReadFilter
    Filter out reads representing supplementary alignments Cate...
  • OrientationBiasReadCounts
    Count of read pairs in the F1R2 and F2R1 configurations support...
  • OriginalAlignment
    Number of alt reads with an OA tag that doesn't match the curre...
  • OverclippedReadFilter
    Filter out reads that are over-soft-clipped Category R...
  • OxoGReadCounts
    Count of read pairs in the F1R2 and F2R1 configurations support...
  • PairedReadFilter
    Filter out unpaired reads Category Read Filters ...
  • ParallelCopyGCSDirectoryIntoHDFSSpark (BETA)
    Parallel copy a file or directory from Google Cloud Storage int...
  • PassesVendorQualityCheckReadFilter
    Filter out reads failing platfor/vendor quality checks Cate...
  • PathSeqBuildKmers
    Builds set of host reference k-mers Category Metagenom...
  • 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...
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