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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

  • RevertBaseQualityScores
    Revert Quality Scores in a SAM/BAM/CRAM file Category ...
  • RevertOriginalBaseQualitiesAndAddMateCigar (Picard)
    Reverts the original base qualities and adds the mate cigar tag...
  • RevertSam (Picard)
    Reverts SAM or BAM files to a previous state. This tool remove...
  • RevertSamSpark (BETA)
    Reverts SAM or BAM files to a previous state. Category ...
  • RMSMappingQuality
    Root mean square of the mapping quality of reads across all sam...
  • SamFormatConverter (Picard)
    Convert a BAM file to a SAM file, or SAM to BAM. Input and outp...
  • SampleList
    List of samples that are not homozygous reference at a variant ...
  • SampleReadFilter
    Keep only reads for a given sample Category Read Filte...
  • SamToFastq (Picard)
    Converts a SAM or BAM file to FASTQ. Extracts read sequences an...
  • ScatterIntervalsByNs (Picard)
    Writes an interval list created by splitting a reference at Ns....
  • SecondOfPairReadFilter
    Keep only paired reads that are second of pair Category ...
  • SelectVariants
    Select a subset of variants from a VCF file Category V...
  • SeqIsStoredReadFilter
    Keep only reads with sequenced bases Category Read Fil...
  • SetNmAndUqTags (Picard)
    DEPRECATED: Use SetNmMdAndUqTags instead.This tool takes in a c...
  • SetNmMdAndUqTags (Picard)
    This tool takes in a coordinate-sorted SAM or BAM and calculate...
  • SimpleMarkDuplicatesWithMateCigar (Picard) (BETA)
    Examines aligned records in the supplied SAM or BAM file to loc...
  • SoftClippedReadFilter
    Filter out reads that are over-soft-clipped Category R...
  • SortSam (Picard)
    This tool sorts the input SAM or BAM file by coordinate, queryn...
  • SortSamSpark (BETA)
    SortSam on Spark (works on SAM/BAM/CRAM) Category Read...
  • SortVcf (Picard)
    Sorts one or more VCF files. This tool sorts the records in VC...
  • SplitIntervals
    Split intervals into sub-interval files. Category Inte...
  • SplitNCigarReads
    Split Reads with N in Cigar Category Read Data Manipul...
  • SplitReads
    Outputs reads from a SAM/BAM/CRAM by read group, sample and lib...
  • SplitSamByLibrary (Picard)
    Takes a SAM or BAM file and separates all the reads into one SA...
  • SplitSamByNumberOfReads (Picard)
    Splits a SAM or BAM file to multiple BAMs.This tool splits the ...
  • SplitVcfs (Picard)
    Splits SNPs and INDELs into separate files. This tool reads in...
  • StrandArtifact
    Annotations for strand artifact filter (SA_POST_PROB, SA_MAP_AF...
  • StrandBiasBySample
    Number of forward and reverse reads that support REF and ALT al...
  • StrandOddsRatio
    Strand bias estimated by the symmetric odds ratio test (SOR) ...
  • StructuralVariationDiscoveryPipelineSpark (BETA)
    Runs the structural variation discovery workflow on a single sa...
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