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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. 4.2.2.0

4.2.2.0

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Tool documentation for GATK release 4.2.2.0

  • CNNScoreVariants
    Apply a Convolutional Neural Net to filter annotated variants ...
  • CNNVariantTrain (EXPERIMENTAL)
    Train a CNN model for filtering variants Category Vari...
  • CNNVariantWriteTensors (EXPERIMENTAL)
    Write variant tensors for training a CNN to filter variants ...
  • CollectAlignmentSummaryMetrics (Picard)
    Produces a summary of alignment metrics from a SAM or BAM file....
  • CollectAllelicCounts
    Collects reference and alternate allele counts at specified sit...
  • CollectArraysVariantCallingMetrics (Picard)
    CollectArraysVariantCallingMetrics takes a Genotyping Arrays VC...
  • CollectBaseDistributionByCycle (Picard)
    Chart the nucleotide distribution per cycle in a SAM or BAM fil...
  • CollectBaseDistributionByCycleSpark (BETA)
    Collects base distribution per cycle in SAM/BAM/CRAM file(s). ...
  • CollectDuplicateMetrics (Picard)
    Collect Duplicate metrics from marked file. This tool only coll...
  • CollectGcBiasMetrics (Picard)
    Collect metrics regarding GC bias. This tool collects informati...
  • CollectHiSeqXPfFailMetrics (Picard)
    Classify PF-Failing reads in a HiSeqX Illumina Basecalling dire...
  • CollectHsMetrics (Picard)
    Collects hybrid-selection (HS) metrics for a SAM or BAM file. ...
  • CollectIlluminaBasecallingMetrics (Picard)
    Collects Illumina Basecalling metrics for a sequencing run. Th...
  • CollectIlluminaLaneMetrics (Picard)
    Collects Illumina lane metrics for the given BaseCalling analys...
  • CollectIndependentReplicateMetrics (Picard) (EXPERIMENTAL)
    Estimates the rate of independent replication rate of reads wit...
  • CollectInsertSizeMetrics (Picard)
    Collect metrics about the insert size distribution of a paired-...
  • CollectInsertSizeMetricsSpark (BETA)
    Collects insert size distribution information on alignment data...
  • CollectJumpingLibraryMetrics (Picard)
    Collect jumping library metrics. This tool collects high-level ...
  • CollectMultipleMetrics (Picard)
    Collect multiple classes of metrics. This 'meta-metrics' tool r...
  • CollectMultipleMetricsSpark (BETA)
    Runs multiple metrics collection modules for a given alignment ...
  • CollectOxoGMetrics (Picard)
    Collect metrics to assess oxidative artifacts.This tool collect...
  • CollectQualityYieldMetrics (Picard)
    Collect metrics about reads that pass quality thresholds and Il...
  • CollectQualityYieldMetricsSpark (BETA)
    Collects quality yield metrics from SAM/BAM/CRAM file(s). C...
  • CollectRawWgsMetrics (Picard)
    Collect whole genome sequencing-related metrics. This tool com...
  • CollectReadCounts
    Collects read counts at specified intervals Category C...
  • CollectRnaSeqMetrics (Picard)
    Produces RNA alignment metrics for a SAM or BAM file. This too...
  • CollectRrbsMetrics (Picard)
    Collects metrics from reduced representation bisulfite sequenci...
  • CollectSamErrorMetrics (Picard)
    Program to collect error metrics on bases stratified in various...
  • CollectSequencingArtifactMetrics (Picard)
    Collect metrics to quantify single-base sequencing artifacts. ...
  • CollectTargetedPcrMetrics (Picard)
    Calculate PCR-related metrics from targeted sequencing data. Th...
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