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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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  3. 4.0.6.0

4.0.6.0

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Tool documentation for GATK release 4.0.6.0

  • IntervalListToBed (Picard)
    Converts an Picard IntervalList file to a BED file. Categor...
  • IntervalListTools (Picard)
    A tool for performing various IntervalList manipulations Summar...
  • IntervalOverlapReadFilter
    Filters out reads that don't overlap the specified region. NOTE...
  • LeftAlignAndTrimVariants
    Left align and trim vairants Category Variant Manipula...
  • LeftAlignIndels
    Left-aligns indels from reads in a SAM/BAM/CRAM file Catego...
  • LibraryReadFilter
    Keep only reads from the specified library Category Re...
  • LiftOverIntervalList (Picard)
    Lifts over an interval list from one reference build to another...
  • LiftoverVcf (Picard)
    Lifts over a VCF file from one reference build to another. Sum...
  • LikelihoodRankSumTest
    Rank sum test of per-read likelihoods of REF versus ALT reads (...
  • MakeSitesOnlyVcf (Picard)
    This tool reads a VCF/VCF.gz/BCF and removes all genotype infor...
  • MappedReadFilter
    Filter out unmapped reads Category Read Filters ...
  • MappingQuality
    Median mapping quality of reads supporting each allele (MMQ) ...
  • MappingQualityAvailableReadFilter
    Filter out reads without available mapping quality Category...
  • MappingQualityNotZeroReadFilter
    Filter out reads with mapping quality equal to zero Categor...
  • MappingQualityRankSumTest
    Rank sum test for mapping qualities of REF versus ALT reads (MQ...
  • MappingQualityReadFilter
    Keep only reads with mapping qualities within a specified range...
  • MappingQualityZero
    Count of all reads with MAPQ = 0 across all samples (MQ0) C...
  • MarkDuplicates (Picard)
    Identifies duplicate reads. This tool locates and tags duplica...
  • MarkDuplicatesGATK (EXPERIMENTAL)
    Examines aligned records in the supplied SAM/BAM/CRAM file to l...
  • MarkDuplicatesSpark (BETA)
    MarkDuplicates on Spark Category Read Data Manipulatio...
  • MarkDuplicatesWithMateCigar (Picard)
    Identifies duplicate reads, accounting for mate CIGAR. This to...
  • MarkIlluminaAdapters (Picard)
    Reads a SAM or BAM file and rewrites it with new adapter-trimmi...
  • MatchingBasesAndQualsReadFilter
    Filter out reads where the bases and qualities do not match ...
  • MateDifferentStrandReadFilter
    Keep only reads with mates mapped on the different strand C...
  • 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...
  • MergeSamFiles (Picard)
    Merges multiple SAM and/or BAM files into a single file. This ...
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