Logo
User Guide Tool Index Blog Forum DRAGEN-GATK Events Download GATK4
Sign in

Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

GATK process banner

Need Help?

Search our documentation

Community Forum

Hi, How can we help?

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

  1. GATK
  2. Tool Index
  3. 4.0.1.0

4.0.1.0

Follow New articles New articles and comments

Tool documentation for GATK release 4.0.1.0

  • PileupSpark (BETA)
    Prints read alignments in samtools pileup format Category Cove...
  • PlatformReadFilter
    Keep only reads with matching Read Group platform Category Rea...
  • PlatformUnitReadFilter
    Filter out reads with matching platform unit attribute Category ...
  • PlotDenoisedCopyRatios (BETA)
    Creates plots of denoised copy ratios Category Copy Number Var...
  • PlotModeledSegments (BETA)
    Creates plots of denoised and segmented copy-ratio and minor-allele-fra...
  • PolymorphicNuMT
    Number of alts indicates it could be an autosomal false positive. C...
  • PositionBasedDownsampleSam (Picard)
    Summary Class to downsample a SAM/BAM file based on the position of the...
  • PossibleDeNovo
    Existence of a de novo mutation in at least one of the given families (...
  • PostprocessGermlineCNVCalls (BETA)
    Postprocesses the output of GermlineCNVCaller and generates VCF files. ...
  • PreprocessIntervals (BETA)
    Prepares bins for coverage collection Category Intervals Manip...
  • PrimaryLineReadFilter
    Keep only reads representing primary alignments (those that satisfy bot...
  • PrintReads
    Print reads in the SAM/BAM/CRAM file Category Read Data Manipu...
  • PrintReadsSpark (BETA)
    PrintReads on Spark Category Read Data Manipulation O...
  • PrintVariantsSpark (BETA)
    Prints out variants from the input VCF. Category Variant Manip...
  • ProperlyPairedReadFilter
    Keep only reads that are properly paired Category Read Filters...
  • QualByDepth
    Variant confidence normalized by unfiltered depth of variant samples (Q...
  • QualityScoreDistribution (Picard)
    Chart the distribution of quality scores. This tool is used for determ...
  • QualityScoreDistributionSpark (BETA)
    QualityScoreDistribution on Spark Category Diagnostics and Qua...
  • ReadGroupBlackListReadFilter
    Keep records not matching the read group tag and exact match string. ...
  • ReadGroupReadFilter
    Keep only reads from the specified read group Category Read Fi...
  • ReadLengthEqualsCigarLengthReadFilter
    Filter out reads where the read and CIGAR do not match in length C...
  • ReadLengthReadFilter
    Keep only reads whose length is within a certain range Category ...
  • ReadNameReadFilter
    Keep only reads with this read name Category Read Filters ...
  • ReadPosition
    Median distance of variant starts from ends of reads supporting each al...
  • ReadPosRankSumTest
    Rank sum test for relative positioning of REF versus ALT alleles within...
  • ReadsPipelineSpark (BETA)
    Takes unaligned or aligned reads and runs BWA (if specified), MarkDupli...
  • ReadStrandFilter
    Keep only reads whose strand is as specified Category Read Fil...
  • ReblockGVCF (EXPERIMENTAL)
    Condenses homRef blocks in a single-sample GVCF Category Other...
  • ReferenceBases
    Annotate with local reference bases (REF_BASES) Category Varia...
  • RemoveNearbyIndels
    (Internal) Remove indels from the VCF file that are close to each other...
  • «
  • ‹
  • 4
  • 5
  • 6
  • 7
  • 8
  • 9
  • 10
  • 11
  • ›
  • »

footer-logo © Broad Institute

  • twitter icon
  • facebook icon
  • linkedin icon
Powered by Zendesk