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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. 4.2.3.0

4.2.3.0

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Tool documentation for GATK release 4.2.3.0

  • BamToBfq (Picard)
    Converts a BAM file into a BFQ (binary fastq formatted) file.Th...
  • BaseQuality
    Median base quality of bases supporting each allele (MBQ) C...
  • BaseQualityRankSumTest
    Rank sum test of REF versus ALT base quality scores (BaseQRankS...
  • BaseRecalibrator
    Generates recalibration table for Base Quality Score Recalibrat...
  • BaseRecalibratorSpark (BETA)
    Generate recalibration table for Base Quality Score Recalibrati...
  • BedToIntervalList (Picard)
    Converts a BED file to a Picard Interval List. This tool provi...
  • BpmToNormalizationManifestCsv (Picard)
    BpmToNormalizationManifestCsv takes an Illumina BPM (Bead Pool ...
  • BQSRPipelineSpark (BETA)
    Both steps of BQSR (BaseRecalibrator and ApplyBQSR) on Spark ...
  • BuildBamIndex (Picard)
    Generates a BAM index ".bai" file. This tool creates an index ...
  • BwaAndMarkDuplicatesPipelineSpark (BETA)
    Takes name-sorted file and runs BWA and MarkDuplicates. Cat...
  • BwaMemIndexImageCreator
    Create a BWA-MEM index image file for use with GATK BWA tools ...
  • BwaSpark (BETA)
    Align reads to a given reference using BWA on Spark Categor...
  • CalcMetadataSpark (BETA)
    (Internal) Collects read metrics relevant to structural variant...
  • CalculateContamination
    Calculate the fraction of reads coming from cross-sample contam...
  • CalculateFingerprintMetrics (Picard)
    Calculate statistics on fingerprints, checking their viabilityT...
  • CalculateGenotypePosteriors
    Calculate genotype posterior probabilities given family and/or ...
  • CalculateMixingFractions
    (Internal) Calculate proportions of different samples in a pool...
  • CalculateReadGroupChecksum (Picard)
    Creates a hash code based on the read groups (RG). This tool c...
  • CalibrateDragstrModel
    estimates the parameters for the DRAGstr model Category ...
  • CallCopyRatioSegments
    Calls copy-ratio segments as amplified, deleted, or copy-number...
  • CheckFingerprint (Picard)
    Checks the sample identity of the sequence/genotype data in the...
  • CheckIlluminaDirectory (Picard)
    Asserts the validity for specified Illumina basecalling data. ...
  • CheckPileup
    Compare GATK's internal pileup to a reference Samtools mpileup ...
  • CheckTerminatorBlock (Picard)
    Asserts the provided gzip file's (e.g., BAM) last block is well...
  • ChromosomeCounts
    Counts and frequency of alleles in called genotypes (AC, AF, AN...
  • CigarContainsNoNOperator
    Filter out reads with CIGAR containing N operator Category ...
  • CleanSam (Picard)
    Cleans the provided SAM/BAM, soft-clipping beyond-end-of-refere...
  • ClippingRankSumTest
    Rank sum test for hard-clipped bases on REF versus ALT reads (C...
  • ClipReads
    Clip reads in a SAM/BAM/CRAM file Category Read Data M...
  • ClusterCrosscheckMetrics (Picard)
    Summary Clusters the results from a {@link CrosscheckFingerprin...
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