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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

  • 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...
  • 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...
  • SvDiscoverFromLocalAssemblyContigAlignmentsSpark (BETA)
    (Internal) Examines aligned contigs from local assemblies and c...
  • TandemRepeat
    Tandem repeat unit composition and counts per allele (STR, RU, ...
  • UmiAwareMarkDuplicatesWithMateCigar (Picard) (EXPERIMENTAL)
    Identifies duplicate reads using information from read position...
  • UniqueAltReadCount
    Number of non-duplicate-insert ALT reads (AS_UNIQ_ALT_READ_COUN...
  • UnmarkDuplicates
    Clears the 0x400 duplicate SAM flag Category Read Data...
  • UpdateVCFSequenceDictionary
    Updates the sequence dictionary in a variant file. Category...
  • UpdateVcfSequenceDictionary (Picard)
    Takes a VCF and a second file that contains a sequence dictiona...
  • ValidAlignmentEndReadFilter
    Keep only reads where the read end is properly aligned Cate...
  • ValidAlignmentStartReadFilter
    Keep only reads with a valid alignment start Category ...
  • ValidateBasicSomaticShortMutations (EXPERIMENTAL)
    Check variants against tumor-normal bams representing the same ...
  • ValidateSamFile (Picard)
    Validates a SAM or BAM file.This tool reports on the validity o...
  • ValidateVariants
    Validate VCF Category Variant Evaluation and Refinemen...
  • VariantAnnotator
    Tool for adding annotations to VCF files Category Vari...
  • VariantEval (BETA)
    General-purpose tool for variant evaluation (% in dbSNP, genoty...
  • VariantFiltration
    Filter variant calls based on INFO and/or FORMAT annotations ...
  • VariantRecalibrator
    Build a recalibration model to score variant quality for filter...
  • VariantsToTable
    Extract fields from a VCF file to a tab-delimited table Cat...
  • VcfFormatConverter (Picard)
    Converts VCF to BCF or BCF to VCF. This tool converts files be...
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