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  • Showing docs for version 3.7-0


    DepthOfCoverage

    Assess sequence coverage by a wide array of metrics, partitioned by sample, read group, or library

    Category Diagnostics and Quality Control Tools

    Traversal LocusWalker

    PartitionBy NONE


    Overview

    This tool processes a set of bam files to determine coverage at different levels of partitioning and aggregation. Coverage can be analyzed per locus, per interval, per gene, or in total; can be partitioned by sample, by read group, by technology, by center, or by library; and can be summarized by mean, median, quartiles, and/or percentage of bases covered to or beyond a threshold. Additionally, reads and bases can be filtered by mapping or base quality score.

    Input

    Output

    Tables pertaining to different coverage summaries. Suffix on the table files declares the contents:

    Usage example

     java -jar GenomeAnalysisTK.jar \
       -T DepthOfCoverage \
       -R reference.fasta \
       -o file_name_base \
       -I input_bams.list
       [-geneList refSeq.sorted.txt] \
       [-pt readgroup] \
       [-ct 4 -ct 6 -ct 10] \
       [-L my_capture_genes.interval_list]
     

    Additional Information

    Read filters

    These Read Filters are automatically applied to the data by the Engine before processing by DepthOfCoverage.

    Parallelism options

    This tool can be run in multi-threaded mode using this option.

    Downsampling settings

    This tool does not apply any downsampling by default.


    Command-line Arguments

    Engine arguments

    All tools inherit arguments from the GATK Engine' "CommandLineGATK" argument collection, which can be used to modify various aspects of the tool's function. For example, the -L argument directs the GATK engine to restrict processing to specific genomic intervals; or the -rf argument allows you to apply certain read filters to exclude some of the data from the analysis.

    DepthOfCoverage specific arguments

    This table summarizes the command-line arguments that are specific to this tool. For more details on each argument, see the list further down below the table or click on an argument name to jump directly to that entry in the list.

    Argument name(s) Default value Summary
    Optional Outputs
    --out
     -o
    None An output file created by the walker. Will overwrite contents if file exists
    Optional Parameters
    --calculateCoverageOverGenes
     -geneList
    NA Calculate coverage statistics over this list of genes
    --countType
    COUNT_READS How should overlapping reads from the same fragment be handled?
    --maxBaseQuality
    127 Maximum quality of bases to count towards depth
    --maxMappingQuality
    2147483647 Maximum mapping quality of reads to count towards depth
    --minBaseQuality
     -mbq
    -1 Minimum quality of bases to count towards depth
    --minMappingQuality
     -mmq
    -1 Minimum mapping quality of reads to count towards depth
    --outputFormat
    rtable The format of the output file
    --partitionType
     -pt
    [sample] Partition type for depth of coverage
    Optional Flags
    --omitDepthOutputAtEachBase
     -omitBaseOutput
    false Do not output depth of coverage at each base
    --omitIntervalStatistics
     -omitIntervals
    false Do not calculate per-interval statistics
    --omitLocusTable
    false Do not calculate per-sample per-depth counts of loci
    --omitPerSampleStats
     -omitSampleSummary
    false Do not output the summary files per-sample
    --printBaseCounts
     -baseCounts
    false Add base counts to per-locus output
    Advanced Parameters
    --nBins
    499 Number of bins to use for granular binning
    --start
    1 Starting (left endpoint) for granular binning
    --stop
    500 Ending (right endpoint) for granular binning
    --summaryCoverageThreshold
     -ct
    [15] Coverage threshold (in percent) for summarizing statistics
    Advanced Flags
    --ignoreDeletionSites
    false Ignore sites consisting only of deletions
    --includeDeletions
     -dels
    false Include information on deletions
    --includeRefNSites
    false Include sites where the reference is N
    --printBinEndpointsAndExit
    false Print the bin values and exit immediately

    Argument details

    Arguments in this list are specific to this tool. Keep in mind that other arguments are available that are shared with other tools (e.g. command-line GATK arguments); see Inherited arguments above.


    --calculateCoverageOverGenes / -geneList

    Calculate coverage statistics over this list of genes
    Specify a RefSeq file for use in aggregating coverage statistics over genes. This argument is incompatible with --calculateCoverageOverGenes and --omitIntervalStatistics. A warning will be logged and no output file will be produced for the gene list if these arguments are enabled together.

    File  NA


    --countType / NA

    How should overlapping reads from the same fragment be handled?

    The --countType argument is an enumerated type (CountPileupType), which can have one of the following values:

    COUNT_READS
    Count all reads independently (even if from the same fragment).
    COUNT_FRAGMENTS
    Count all fragments (even if the reads that compose the fragment are not consistent at that base).
    COUNT_FRAGMENTS_REQUIRE_SAME_BASE
    Count all fragments (but only if the reads that compose the fragment are consistent at that base).

    CountPileupType  COUNT_READS


    --ignoreDeletionSites / NA

    Ignore sites consisting only of deletions

    boolean  false


    --includeDeletions / -dels

    Include information on deletions
    Consider a spanning deletion as contributing to coverage. Also enables deletion counts in per-base output.

    boolean  false


    --includeRefNSites / NA

    Include sites where the reference is N
    Normally, sites where the reference is N (or another non-canonical base) are skipped. If this option is enabled, these sites will be included in DoC calculations if there is coverage from neighboring reads.

    boolean  false


    --maxBaseQuality / NA

    Maximum quality of bases to count towards depth
    Bases with quality scores higher than this threshold will be skipped. The default value is the largest number that can be represented as a byte.

    byte  127  [ [ 0  127 ] ]


    --maxMappingQuality / NA

    Maximum mapping quality of reads to count towards depth
    Reads with mapping quality values higher than this threshold will be skipped. The default value is the largest number that can be represented as an integer by the program.

    int  2147483647  [ [ 0  2,147,483,647 ] ]


    --minBaseQuality / -mbq

    Minimum quality of bases to count towards depth
    Bases with quality scores lower than this threshold will be skipped. This is set to -1 by default to disable the evaluation and ignore this threshold.

    byte  -1  [ [ 0  127 ] ]


    --minMappingQuality / -mmq

    Minimum mapping quality of reads to count towards depth
    Reads with mapping quality values lower than this threshold will be skipped. This is set to -1 by default to disable the evaluation and ignore this threshold.

    int  -1  [ [ 0  2,147,483,647 ] ]


    --nBins / NA

    Number of bins to use for granular binning
    Sets the number of bins for granular binning

    int  499  [ [ 0  [ 1  ∞ ] ]


    --omitDepthOutputAtEachBase / -omitBaseOutput

    Do not output depth of coverage at each base
    Disabling the tabulation of total coverage at every base should speed up processing.

    boolean  false


    --omitIntervalStatistics / -omitIntervals

    Do not calculate per-interval statistics
    Disabling the tabulation of interval statistics (mean, median, quartiles AND # intervals by sample by coverage) should speed up processing. This option is required in order to use -nt parallelism.

    boolean  false


    --omitLocusTable / -omitLocusTable

    Do not calculate per-sample per-depth counts of loci
    Disabling the tabulation of locus statistics (# loci covered by sample by coverage) should speed up processing.

    boolean  false


    --omitPerSampleStats / -omitSampleSummary

    Do not output the summary files per-sample
    This option simply disables writing separate files for per-sample summary statistics (total, mean, median, quartile coverage per sample). These statistics are still calculated internally, so enabling this option will not improve runtime.

    boolean  false


    --out / -o

    An output file created by the walker. Will overwrite contents if file exists

    Map[DoCOutputType,PrintStream]  None


    --outputFormat / NA

    The format of the output file
    Output file format (e.g. csv, table, rtable); defaults to r-readable table.

    String  rtable


    --partitionType / -pt

    Partition type for depth of coverage
    By default, coverage is partitioning by sample, but it can be any combination of sample, readgroup and/or library.

    Set[Partition]  [sample]


    --printBaseCounts / -baseCounts

    Add base counts to per-locus output
    Instead of reporting depth, the program will report the base pileup at each locus

    boolean  false


    --printBinEndpointsAndExit / NA

    Print the bin values and exit immediately
    Use this option to calibrate what bins you want before performing full calculations on your data.

    boolean  false


    --start / NA

    Starting (left endpoint) for granular binning
    Sets the low-coverage cutoff for granular binning. All loci with depth < START are counted in the first bin.

    int  1  [ [ 0  ∞ ] ]


    --stop / NA

    Ending (right endpoint) for granular binning
    Sets the high-coverage cutoff for granular binning. All loci with depth > STOP are counted in the last bin.

    int  500  [ [ 1  ∞ ] ]


    --summaryCoverageThreshold / -ct

    Coverage threshold (in percent) for summarizing statistics
    For summary file outputs, report the percentage of bases covered to an amount equal to or greater than this number (e.g. % bases >= CT for each sample). Defaults to 15; can take multiple arguments.

    int[]  [15]