haplotypecaller
This tool runs a GPU accelerated haplotypecaller. Users can provide an optional BQSR report to fix the BAM similar to ApplyBQSR. In which case, the updated base qualities will be used.
$ pbrun haplotypecaller \
--ref Ref/Homo_sapiens_assembly38.fasta \
--in-bam mark_dups_gpu.bam \
--in-recal-file recal_gpu.txt \
--out-variants result.vcf
The commands below are the GATK4 counterpart of the Parabricks command above. The output from these commands will be identical to the output from the above command. See the Output Comparison page for comparing the results.
# Run ApplyBQSR Step
$ gatk ApplyBQSR --java-options -Xmx30g -R Ref/Homo_sapiens_assembly38.fasta \
-I=mark_dups_cpu.bam --bqsr-recal-file=recal_file.txt -O=cpu_nodups_BQSR.bam
#Run Haplotype Caller
$ gatk HaplotypeCaller --java-options -Xmx30g --input cpu_nodups_BQSR.bam --output \
result_cpu.vcf --reference Ref/Homo_sapiens_assembly38.fasta \
--native-pair-hmm-threads 16
Run HaplotypeCaller to convert BAM/CRAM to VCF.
Input/Output file options
- --ref REF
- --in-bam IN_BAM
- --in-recal-file IN_RECAL_FILE
- --interval-file INTERVAL_FILE
- --out-variants OUT_VARIANTS
Path to the reference file. (default: None)
Option is required.
Path to the input BAM/CRAM file for variant calling. The argument may also be a local folder containing several BAM files; each will be processed by 1 GPU in batch mode. (default: None)
Option is required.
Path to the input BQSR report. (default: None)
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)
Path of the vcf/g.vcf/gvcf.gz file after variant calling. The argument may also be a local folder in batch mode. (default: None)
Option is required.
Tool Options:
- --haplotypecaller-options HAPLOTYPECALLER_OPTIONS
- --static-quantized-quals STATIC_QUANTIZED_QUALS
- --gvcf
- --batch
- --disable-read-filter DISABLE_READ_FILTER
- --max-alternate-alleles MAX_ALTERNATE_ALLELES
- -G ANNOTATION_GROUP, --annotation-group ANNOTATION_GROUP
- -GQB GVCF_GQ_BANDS, --gvcf-gq-bands GVCF_GQ_BANDS
- --rna
- --dont-use-soft-clipped-bases
- --run-partition
- --no-alt-contigs
- --ploidy PLOIDY
- -L INTERVAL, --interval INTERVAL
- -ip INTERVAL_PADDING, --interval-padding INTERVAL_PADDING
Pass supported haplotype caller options as one string. Currently supported original haplotypecaller options: -min-pruning <int>, -standard-min-confidence-threshold-for-calling <int>, -max-reads-per-alignment-start <int>, -min-dangling-branch-length <int>, -pcr-indel-model <NONE, HOSTILE, AGGRESSIVE, CONSERVATIVE>, --output-mode <EMIT_VARIANTS_ONLY, EMIT_ALL_CONFIDENT_SITES, EMIT_ALL_ACTIVE_SITES> (e.g. --haplotypecaller-options="-min-pruning 4 -standard-min-confidence-threshold-for-calling 30"). (default: None)
Use static quantized quality scores to a given number of levels. Repeat this option multiple times for multiple bins. (default: None)
Generate variant calls in .gvcf Format. (default: None)
Given an input list of BAMs, run the variant calling of each BAM using one GPU, and process BAMs in parallel based on how many GPUs the system has. (default: None)
Disable the read filters for BAM entries. Currently, the supported read filters that can be disabled are MappingQualityAvailableReadFilter, MappingQualityReadFilter, NotSecondaryAlignmentReadFilter, and WellformedReadFilter. (default: None)
Maximum number of alternate alleles to genotype. (default: None)
The groups of annotations to add to the output variant calls. Currently supported annotation groups are: StandardAnnotation, StandardHCAnnotation, and AS_StandardAnnotation. (default: None)
Exclusive upper bounds for reference confidence GQ bands. Must be in the range [1, 100] and specified in increasing order. (default: None)
Run haplotypecaller optimized for RNA data. (default: None)
Don't use soft clipped bases for variant calling. (default: None)
Divide the whole genome into multiple partition and run multiple processes at the same time, each on 1 partition. (default: None)
Get rid of output records for alternate contigs. (default: None)
Ploidy assumed for the BAM file. Currently only haploid (ploidy 1) and diploid (ploidy 2) are supported. (default: 2)
Interval within which to call the variants from the BAM/CRAM file. 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)
Amount of padding (in base pairs) to add to each interval you are including. (default: None)
Common options:
- --logfile LOGFILE
- --tmp-dir TMP_DIR
- --with-petagene-dir WITH_PETAGENE_DIR
- --keep-tmp
- --license-file LICENSE_FILE
- --no-seccomp-override
- --version
Path to the log file. If not specified, messages will only be written to the standard error output. (default: None)
Full path to the directory where temporary files will be stored.
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)
Do not delete the directory storing temporary files after completion.
Path to license file license.bin if not in the installation directory.
Do not override seccomp options for docker (default: None).
View compatible software versions.
GPU options:
- --num-gpus NUM_GPUS
- --gpu-devices GPU_DEVICES
Number of GPUs to use for a run. GPUs 0..(NUM_GPUS-1) will be used.
GPU devices to use for a run. By default, all GPU devices will be used.
To use specific GPU devices, enter a comma-separated list of GPU device
numbers. Possible device numbers can be found by examining the output of
the nvidia-smi command. For example, using --gpu-devices 0,1
would only use the first two GPUs.
In the values provided to --haplotypecaller-options --output-mode requires two leading hyphens, while all other values take a single hyphen.