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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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  2. Tool Index
  3. 4.0.5.2

4.0.5.2

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Tool documentation for GATK release 4.0.5.2

  • FixVcfHeader (Picard)
    Replaces or fixes a VCF header.This tool will either replace th...
  • FlagStat
    Accumulate flag statistics given a BAM file Category D...
  • FlagStatSpark (BETA)
    Spark tool to accumulate flag statistics Category Diag...
  • FragmentLength
    Median fragment length of reads supporting each allele (MFRL) ...
  • FragmentLengthReadFilter
    Keep only read pairs with insert length less than or equal to t...
  • FuncotateSegments (BETA)
    Functional annotation for segment files. The output formats ar...
  • Funcotator (BETA)
    Functional Annotator Category Variant Evaluation and R...
  • FuncotatorDataSourceDownloader (BETA)
    Data source downloader for Funcotator. Category Varian...
  • GatherBamFiles (Picard)
    Concatenate efficiently BAM files that resulted from a scattere...
  • GatherBQSRReports
    Gathers scattered BQSR recalibration reports into a single file...
  • GatherTranches (BETA)
    Gathers scattered VQSLOD tranches into a single file Catego...
  • GatherVcfs (Picard)
    Gathers multiple VCF files from a scatter operation into a sing...
  • GatherVcfsCloud (BETA)
    Gathers multiple VCF files from a scatter operation into a sing...
  • GenomicsDBImport
    Import VCFs to GenomicsDB Category Short Variant Disco...
  • GenotypeConcordance (Picard)
    Calculates the concordance between genotype data of one samples...
  • GenotypeGVCFs
    Perform joint genotyping on one or more samples pre-called with...
  • GenotypeSummaries
    Summary of genotype statistics from all samples (NCC, GQ_MEAN, ...
  • GermlineCNVCaller (BETA)
    Calls copy-number variants in germline samples given their coun...
  • GetPileupSummaries (BETA)
    Tabulates pileup metrics for inferring contamination Catego...
  • GetSampleName (BETA)
    Emit a single sample name Category Diagnostics and Qua...
  • GnarlyGenotyper (BETA)
    Perform "quick and dirty" joint genotyping on one or more sampl...
  • GoodCigarReadFilter
    Keep only reads containing good CIGAR string Category ...
  • GtcToVcf (Picard)
    GtcToVcf takes an Illumina GTC file and converts it to a VCF fi...
  • HaplotypeCaller
    Call germline SNPs and indels via local re-assembly of haplotyp...
  • HaplotypeCallerSpark (BETA)
    HaplotypeCaller on Spark Category Short Variant Discov...
  • HasReadGroupReadFilter
    Filter out reads without Read Group Category Read Filt...
  • IlluminaBasecallsToFastq (Picard)
    Generate FASTQ file(s) from Illumina basecall read data. This ...
  • IlluminaBasecallsToSam (Picard)
    Transforms raw Illumina sequencing data into an unmapped SAM or...
  • InbreedingCoeff
    Likelihood-based test for the consanguinity among samples (Inbr...
  • IndexFeatureFile
    Creates an index for a feature file, e.g. VCF or BED file. ...
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