bammetrics

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Accelerated GATK4 CollectWGSMetrics.

This tool applies an accelerated version of the GATK CollectWGSMetrics for assessing coverage and quality of an aligned whole-genome BAM file. This includes metrics such as the fraction of reads that pass the base and mapping quality filters, and the coverage levels (read-depth) across the genome. These act as an overall quality check for the user, allowing assessment of how well a sequencing run has performed.

Refer to the bammetrics Reference section for a detailed listing of all available options.

Quick Start

1# This command assumes all the inputs are in the current working directory and all the outputs go to the same place.
2docker run --rm --gpus all --volume $(pwd):/workdir --volume $(pwd):/outputdir \
3 --workdir /workdir \
4 nvcr.io/nvidia/clara/clara-parabricks:4.7.1-1 \
5 pbrun bammetrics \
6 --ref /workdir/${REFERENCE_FILE} \
7 --bam /workdir/${INPUT_BAM} \
8 --out-metrics-file /outputdir/${METRICS_FILE}

Compatible GATK4 Command

The command below is the GATK4 counterpart of the Parabricks command above. The output from this command will be identical to the output from the above command.

1$ gatk CollectWgsMetrics \
2 -R <INPUT_DIR>/${REFERENCE_FILE} \
3 -I <INPUT_DIR>/${INPUT_BAM} \
4 -O <OUTPUT_DIR>/${METRICS_FILE}

Options

TypeNameRequired?Description
I/O--ref REFYesPath to the reference file.
I/O--bam BAMYesPath to the BAM file.
I/O--interval-file INTERVAL_FILENoPath to an interval file in one of these formats: Picard-style (.interval_list or .picard), GATK-style (.list or .intervals), or BED file (.bed). This option can be used multiple times.
I/O--out-metrics-file OUT_METRICS_FILEYesOutput Metrics File.
Tool--minimum-base-quality MINIMUM_BASE_QUALITYNoMinimum base quality for a base to contribute coverage. (default: 20)
Tool--minimum-mapping-quality MINIMUM_MAPPING_QUALITYNoMinimum mapping quality for a read to contribute coverage. (default: 20)
Tool--count-unpairedNoIf specified, count unpaired reads and paired reads with one end unmapped.
Tool--coverage-cap COVERAGE_CAPNoTreat positions with coverage exceeding this value as if they had coverage at this value (but calculate the difference for PCT_EXC_CAPPED). (default: 250)
Tool-L INTERVAL, --interval INTERVALNoInterval within which to collect metrics from the BAM/CRAM file. All intervals will have a padding of 0 to get read records, and overlapping intervals will be combined. Interval files should be passed using the --interval-file option. This option can be used multiple times (e.g. "-L chr1 -L chr2:10000 -L chr3:20000+ -L chr4:10000-20000").
Performance--num-threads NUM_THREADSNoNumber of threads to run. (default: 12)
Runtime--verboseNoEnable verbose output.
Runtime--x3NoShow full command line arguments.
Runtime--logfile LOGFILENoPath to the log file. If not specified, messages will only be written to the standard error output.
Runtime--tmp-dir TMP_DIRNoFull path to the directory where temporary files will be stored. (default: .)
Runtime--with-petagene-dir WITH_PETAGENE_DIRNoFull path to the PetaGene installation directory. By default, this should have been installed at /opt/petagene. Use of this option also requires that the PetaLink library has been preloaded by setting the LD_PRELOAD environment variable. Optionally set the PETASUITE_REFPATH and PGCLOUD_CREDPATH environment variables that are used for data and credentials. Optionally set the PetaLinkMode environment variable that is used to further configure PetaLink, notably setting it to "+write" to enable outputting compressed BAM and .fastq files.
Runtime--keep-tmpNoDo not delete the directory storing temporary files after completion.
Runtime--no-seccomp-overrideNoDo not override seccomp options for docker.
Runtime--versionNoView compatible software versions.
Runtime--preserve-file-symlinksNoOverride default behavior to keep file symlinks intact and *not* resolve the symlink.