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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

  • IlluminaBasecallsToSam (Picard)
    Transforms raw Illumina sequencing data into an unmapped SAM or BAM fil...
  • InbreedingCoeff
    Likelihood-based test for the consanguinity among samples (InbreedingCo...
  • IndexFeatureFile
    Creates an index for a feature file, e.g. VCF or BED file. Category...
  • IntervalListToBed (Picard)
    Converts an Picard IntervalList file to a BED file. Category I...
  • IntervalListTools (Picard)
    A tool for performing various IntervalList manipulations SummaryThis to...
  • IntervalOverlapReadFilter
    Filters out reads that don't overlap the specified region. NOTE: This a...
  • LeftAlignAndTrimVariants
    Left align and trim vairants Category Variant Manipulation ...
  • LeftAlignIndels
    Left-aligns indels from reads in a SAM/BAM/CRAM file Category ...
  • LibraryReadFilter
    Keep only reads from the specified library Category Read Filte...
  • LiftOverIntervalList (Picard)
    Lifts over an interval list from one reference build to another. This t...
  • LiftoverVcf (Picard)
    Lifts over a VCF file from one reference build to another. Summary Too...
  • LikelihoodRankSumTest
    Rank sum test of per-read likelihoods of REF versus ALT reads (Likeliho...
  • MakeSitesOnlyVcf (Picard)
    This tool reads a VCF/VCF.gz/BCF and removes all genotype information f...
  • MappedReadFilter
    Filter out unmapped reads Category Read Filters Overv...
  • MappingQuality
    Median mapping quality of reads supporting each allele (MMQ) Catego...
  • MappingQualityAvailableReadFilter
    Filter out reads without available mapping quality Category Re...
  • MappingQualityNotZeroReadFilter
    Filter out reads with mapping quality equal to zero Category R...
  • MappingQualityRankSumTest
    Rank sum test for mapping qualities of REF versus ALT reads (MQRankSum)...
  • MappingQualityReadFilter
    Keep only reads with mapping qualities within a specified range Cat...
  • MappingQualityZero
    Count of all reads with MAPQ = 0 across all samples (MQ0) Category ...
  • MarkDuplicates (Picard)
    Identifies duplicate reads. This tool locates and tags duplicate reads...
  • MarkDuplicatesGATK (EXPERIMENTAL)
    Examines aligned records in the supplied SAM/BAM/CRAM file to locate du...
  • MarkDuplicatesSpark (BETA)
    MarkDuplicates on Spark Category Read Data Manipulation ...
  • MarkDuplicatesWithMateCigar (Picard)
    Identifies duplicate reads, accounting for mate CIGAR. This tool locat...
  • MarkIlluminaAdapters (Picard)
    Reads a SAM or BAM file and rewrites it with new adapter-trimming tags....
  • MatchingBasesAndQualsReadFilter
    Filter out reads where the bases and qualities do not match Categor...
  • MateDifferentStrandReadFilter
    Keep only reads with mates mapped on the different strand Category ...
  • MateOnSameContigOrNoMappedMateReadFilter
    Keep only reads whose mate maps to the same contig or is unmapped C...
  • MateUnmappedAndUnmappedReadFilter
    Filters reads whose mate is unmapped as well as unmapped reads. Cat...
  • MeanQualityByCycle (Picard)
    Collect mean quality by cycle.This tool generates a data table and char...
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