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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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  3. 4.2.3.0

4.2.3.0

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Tool documentation for GATK release 4.2.3.0

  • FirstOfPairReadFilter
    Keep only reads that are first of pair Category Read F...
  • FisherStrand
    Strand bias estimated using Fisher's exact test (FS) Catego...
  • FixMateInformation (Picard)
    Verify mate-pair information between mates and fix if needed.Th...
  • FixMisencodedBaseQualityReads
    Fix Illumina base quality scores in a SAM/BAM/CRAM file Cat...
  • 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
    Spark tool to accumulate flag statistics Category Diag...
  • FragmentDepthPerAlleleBySample
    Depth of coverage of each allele per sample (AD) Category ...
  • 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
    Functional Annotator Category Variant Evaluation and R...
  • FuncotatorDataSourceDownloader
    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...
  • GeneExpressionEvaluation (BETA)
    Evaluate gene expression from RNA-seq reads aligned to genome. ...
  • GenomicsDBImport
    Import VCFs to GenomicsDB Category Short Variant Disco...
  • GenotypeConcordance (Picard)
    Calculates the concordance between genotype data of one sample ...
  • GenotypeGVCFs
    Perform joint genotyping on one or more samples pre-called with...
  • GenotypeSummaries
    Summary of genotype statistics from all samples (NCC, GQ_MEAN, ...
  • GermlineCNVCaller
    Calls copy-number variants in germline samples given their coun...
  • GetPileupSummaries
    Tabulates pileup metrics for inferring contamination Catego...
  • GetSampleName
    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...
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