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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

  1. GATK
  2. Tool Index
  3. 4.2.4.0

4.2.4.0

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Tool documentation for GATK release 4.2.4.0

  • MateDifferentStrandReadFilter
    Keep only reads with mates mapped on the different strand C...
  • MateDistantReadFilter
    Keep only paired reads with mates mapped >= mate-too-distant-le...
  • MateOnSameContigOrNoMappedMateReadFilter
    Keep only reads whose mate maps to the same contig or is unmapp...
  • MateUnmappedAndUnmappedReadFilter
    Filters reads whose mate is unmapped as well as unmapped reads....
  • MeanQualityByCycle (Picard)
    Collect mean quality by cycle.This tool generates a data table ...
  • MeanQualityByCycleSpark (BETA)
    MeanQualityByCycle on Spark Category Diagnostics and Q...
  • MergeBamAlignment (Picard)
    Merge alignment data from a SAM or BAM with data in an unmapped...
  • MergePedIntoVcf (Picard)
    MergePedIntoVcf takes a single-sample ped file output from zCal...
  • MergeSamFiles (Picard)
    Merges multiple SAM and/or BAM files into a single file. This ...
  • 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
    Models segmented copy ratios from denoised copy ratios 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...
  • NotProperlyPairedReadFilter
    Keep only paired reads that are not properly paired Categor...
  • 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...
  • 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...
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