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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. 4.0.1.0

4.0.1.0

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Tool documentation for GATK release 4.0.1.0

  • MeanQualityByCycleSpark (BETA)
    MeanQualityByCycle on Spark Category Diagnostics and Quality C...
  • MergeBamAlignment (Picard)
    Merge alignment data from a SAM or BAM with data in an unmapped BAM fil...
  • MergeSamFiles (Picard)
    Merges multiple SAM and/or BAM files into a single file. This tool is ...
  • MergeVcfs (Picard)
    Combines multiple variant files into a single variant file.Inputs ...
  • MethylationTypeCaller (EXPERIMENTAL)
    Identify methylated bases from bisulfite sequenced, methylation-aware B...
  • MetricsReadFilter
    Filter out reads that fail platform quality checks, are unmapped and re...
  • ModelSegments (BETA)
    Models segmented copy ratios from denoised read counts and segmented mi...
  • Mutect2 (BETA)
    Call somatic SNVs and indels via local assembly of haplotypes Categ...
  • NonChimericOriginalAlignmentReadFilter
    Filters reads whose original alignment was chimeric. Category ...
  • NonNFastaSize (Picard)
    Counts the number of non-N bases in a fasta file.This tool takes any FA...
  • NonZeroFragmentLengthReadFilter
    Filter out reads with fragment length different from zero Category ...
  • NonZeroReferenceLengthAlignmentReadFilter
    Filter out reads that do not align to the reference Category R...
  • NormalizeFasta (Picard)
    Normalizes lines of sequence in a FASTA file to be of the same length.T...
  • NotDuplicateReadFilter
    Filter out reads marked as duplicate Category Read Filters ...
  • NotSecondaryAlignmentReadFilter
    Filter out reads representing secondary alignments Category Re...
  • NotSupplementaryAlignmentReadFilter
    Filter out reads representing supplementary alignments Category ...
  • OrientationBiasReadCounts
    Count of read pairs in the F1R2 and F2R1 configurations supporting REF ...
  • OriginalAlignment
    Number of alt reads with an OA tag that doesn't match the current align...
  • OverclippedReadFilter
    Filter out reads that are over-soft-clipped Category Read Filt...
  • OxoGReadCounts
    Count of read pairs in the F1R2 and F2R1 configurations supporting REF ...
  • PairedReadFilter
    Filter out unpaired reads Category Read Filters Overv...
  • ParallelCopyGCSDirectoryIntoHDFSSpark (BETA)
    Parallel copy a file or directory from Google Cloud Storage into the HD...
  • PassesVendorQualityCheckReadFilter
    Filter out reads failing platfor/vendor quality checks Category ...
  • PathSeqBuildKmers
    Builds set of host reference k-mers Category Metagenomics ...
  • PathSeqBuildReferenceTaxonomy
    Builds a taxonomy datafile of the microbe reference Category M...
  • PathSeqBwaSpark
    Step 2: Aligns reads to the microbe reference Category Metagen...
  • PathSeqFilterSpark
    Step 1: Filters low quality, low complexity, duplicate, and host reads ...
  • PathSeqPipelineSpark
    Combined tool that performs all steps: read filtering, microbe referenc...
  • PathSeqScoreSpark
    Step 3: Classifies pathogen-aligned reads and generates abundance score...
  • Pileup
    Prints read alignments in samtools pileup format Category Cove...
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