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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

  • ReadLengthReadFilter
    Keep only reads whose length is within a certain range Cate...
  • ReadNameReadFilter
    Keep only reads with this read name Category Read Filt...
  • ReadPosition
    Median distance of variant starts from ends of reads supporting...
  • ReadPosRankSumTest
    Rank sum test for relative positioning of REF versus ALT allele...
  • ReadsPipelineSpark (BETA)
    Runs BWA (if specified), MarkDuplicates, BQSR, and HaplotypeCal...
  • ReadStrandFilter
    Keep only reads whose strand is as specified Category ...
  • ReblockGVCF
    Condenses homRef blocks in a single-sample GVCF Category ...
  • ReferenceBases
    Annotate with local reference bases (REF_BASES) Category ...
  • RemoveNearbyIndels
    (Internal) Remove indels from the VCF file that are close to ea...
  • RenameSampleInVcf (Picard)
    This tool enables the user to rename a sample in either a VCF o...
  • ReorderSam (Picard)
    Not to be confused with SortSam which sorts a SAM or BAM file w...
  • ReplaceSamHeader (Picard)
    Replaces the SAMFileHeader in a SAM or BAM file. This tool mak...
  • RevertBaseQualityScores
    Revert Quality Scores in a SAM/BAM/CRAM file Category ...
  • RevertOriginalBaseQualitiesAndAddMateCigar (Picard)
    Reverts the original base qualities and adds the mate cigar tag...
  • RevertSam (Picard)
    Reverts SAM or BAM files to a previous state. This tool remove...
  • RevertSamSpark (BETA)
    Reverts SAM, BAM or CRAM files to a previous state. Categor...
  • RMSMappingQuality
    Root mean square of the mapping quality of reads across all sam...
  • SamFormatConverter (Picard)
    Convert a BAM file to a SAM file, or SAM to BAM. Input and outp...
  • SampleList
    List of samples that are not homozygous reference at a variant ...
  • SampleReadFilter
    Keep only reads for a given sample Category Read Filte...
  • SamToFastq (Picard)
    Converts a SAM or BAM file to FASTQ. Extracts read sequences an...
  • ScatterIntervalsByNs (Picard)
    Writes an interval list created by splitting a reference at Ns....
  • SecondOfPairReadFilter
    Keep only paired reads that are second of pair Category ...
  • SelectVariants
    Select a subset of variants from a VCF file Category V...
  • SeqIsStoredReadFilter
    Keep only reads with sequenced bases Category Read Fil...
  • SetNmAndUqTags (Picard)
    DEPRECATED: Use SetNmMdAndUqTags instead.This tool takes in a c...
  • SetNmMdAndUqTags (Picard)
    This tool takes in a coordinate-sorted SAM or BAM and calculate...
  • ShiftFasta (BETA)
    Creates a shifted fasta file and shift_back file Category ...
  • SimpleMarkDuplicatesWithMateCigar (Picard) (EXPERIMENTAL)
    Examines aligned records in the supplied SAM or BAM file to loc...
  • SoftClippedReadFilter
    Filter out reads that are over-soft-clipped Category R...
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