applybqsr

Updates the Base Quality Scores using the BQSR report.

This tool recalibrates quality scores in a BAM file using the report generated by the bqsr [link] tool. This should be applied after alignment but before variant calling to maximize final accuracy in variant calling, as recommended by GATK best practices.

Please note that the applybqsr tool will use at most two GPUs.

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# This command assumes all the inputs are in and all the outputs go to . $ docker run --rm --gpus all --volume <INPUT_DIR>:/workdir --volume <OUTPUT_DIR>:/outputdir -w /workdir \ nvcr.io/nvidia/clara/clara-parabricks:4.0.0-1 \ pbrun applybqsr \ --ref /workdir/${REFERENCE_FILE} \ --in-bam /workdir/${INPUT_BAM} \ --in-recal-file /workdir/${INPUT_RECAL_FILE} \ --out-bam /outputdir/${OUTPUT_BAM}

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

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$ gatk ApplyBQSR \ --java-options -Xmx30g \ -R <INPUT_DIR>/${REFERENCE_FILE} \ -I <INPUT_DIR>/${INPUT_BAM} \ --bqsr-recal-file <INPUT_DIR>/${INPUT_RECAL_FILE} \ -O <OUTPUT_DIR>/${OUTPUT_BAM}

Update the Base Quality Scores using the BQSR report.

Input/Output file options

--ref REF

Path to the reference file. (default: None)

Option is required.

--in-bam IN_BAM

Path to the BAM file. (default: None)

Option is required.

--in-recal-file IN_RECAL_FILE

Path to the bqsr report file. (default: None)

Option is required.

--interval-file INTERVAL_FILE

Path 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. (default: None)

--out-bam OUT_BAM

Output BAM file. (default: None)

Option is required.

Tool Options:

-L INTERVAL, --interval INTERVAL

Interval within which to call applyBQSR from the input reads. All intervals will have a padding of 100 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"). (default: None)

-ip INTERVAL_PADDING, --interval-padding INTERVAL_PADDING

Amount of padding (in base pairs) to add to each interval you are including. (default: None)

--num-threads NUM_THREADS

Number of threads for worker. (default: 8)

Common options:

--logfile LOGFILE

Path to the log file. If not specified, messages will only be written to the standard error output. (default: None)

--tmp-dir TMP_DIR

Full path to the directory where temporary files will be stored.

--with-petagene-dir WITH_PETAGENE_DIR

Full 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 (default: None)

--keep-tmp

Do not delete the directory storing temporary files after completion.

--no-seccomp-override

Do not override seccomp options for docker (default: None).

--version

View compatible software versions.

GPU options:

--num-gpus NUM_GPUS

Number of GPUs to use for a run. GPUs 0..(NUM_GPUS-1) will be used.

© Copyright 2022, Nvidia. Last updated on Jun 28, 2023.