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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. 4.0.6.0

4.0.6.0

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Tool documentation for GATK release 4.0.6.0

  • 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 (UNIQ_ALT_READ_COUNT) ...
  • 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 the variants in a VCF against a tumor-normal pair of bams...
  • ValidateSamFile (Picard)
    Validates a SAM or BAM file.This tool reports on the validity o...
  • ValidateVariants
    Validate VCF Category Variant Evaluation and Refinemen...
  • VariantAnnotator (BETA)
    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...
  • VcfToAdpc (Picard)
    VcfToAdpc takes a VCF, as generated by GtcToVcf and generates a...
  • VcfToIntervalList (Picard)
    This tool creates a Picard Interval List from a VCF or BCF. It ...
  • ViewSam (Picard)
    Very simple command that just reads a SAM or BAM file andwrites...
  • WellformedReadFilter
    Keep only reads that are well-formed Category Read Fil...
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