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# 4.7.1-1 Release Notes

**Highlights:**

* Performance improvements in [deepvariant](/tool-reference/tools/deepvariant) with small model enabled. **The small model is now enabled by default, similar to Google DeepVariant.**
* Added Roche SBX mode to [pangenome\_aware\_deepvariant](/tool-reference/tools/pangenome-aware-deepvariant) with the new `--sbx` flag for GPU-accelerated variant calling on Roche SBX-D and SBX-Fast sequencing data.
* Performance improvements for [fq2bam](/tool-reference/tools/fq-2-bam-bwa-mem-gatk) and [fq2bam\_meth](/tool-reference/tools/fq-2-bam-meth). Added optional support for processing reads up to 1024 bp on GPU.
* Performance improvements for single-end alignment with [giraffe](/tool-reference/tools/giraffe-vg-giraffe-gatk).
* Added support for reading CRAM v3.1 files.
* Updated version of [minimap2](/tool-reference/tools/minimap-2) to v2.31.
* GPU-accelerated chaining in [minimap2](/tool-reference/tools/minimap-2) with the new `--chaining-on-gpu` flag.

## Improvements

All tools that rely on Parabricks GPU-accelerated sort now have improved error handling. Running `pbrun <tool> --help` or `pbrun <tool> -h` now works without GPUs visible.

### Tool Updates

[deepvariant](/tool-reference/tools/deepvariant), [deepvariant\_germline](/tool-reference/tools/deepvariant-germline), [pacbio\_germline](/tool-reference/tools/pacbio-germline), and [ont\_germline](/tool-reference/tools/ont-germline):

* Improved performance with the small model across WGS, PacBio, and ONT modes.
* The small model is now enabled by default. Use `--disable-small-model` to disable it.

[pangenome\_aware\_deepvariant](/tool-reference/tools/pangenome-aware-deepvariant):

* Added Roche SBX mode with `--sbx` for GPU-accelerated variant calling on Roche SBX-D and SBX-Fast short-read data.

[giraffe](/tool-reference/tools/giraffe-vg-giraffe-gatk):

* Improved performance of the GPU seed-extension (GBWT) stage.
* Improved performance when producing final read alignments.
* Improved performance of the GPU Dozeu alignment kernel.
* Improved initialization time for single-end alignment.
* Moved minimizer payload decoding to the GPU, reducing CPU load.
* Additional performance improvements and reduced host-side memory usage during alignment.

[minimap2](/tool-reference/tools/minimap-2):

* Updated version of minimap2 to v2.31.
* Added `--chaining-on-gpu` flag to use GPUs to accelerate chaining, a compute-intensive step in minimap2 alignment, reducing CPU load.
* Improved performance of GPU-accelerated spliced alignment.

[fq2bam](/tool-reference/tools/fq-2-bam-bwa-mem-gatk) and [fq2bam\_meth](/tool-reference/tools/fq-2-bam-meth):

* Improved performance for both single-end and paired-end alignment.
* Added partition mode (`--run-partition`), which runs one process per partition to more efficiently split work across multiple GPUs. The `--bwa-gpu-num-per-partition` option controls the number of GPUs each partition drives (default: 2).
* Increased the maximum read size supported for processing on GPU to 1024 bp. The maximum read size to process on GPU can be controlled via `--max-read-size-gpu`, where valid values are 512 or 1024 bp and the default remains 512 bp. In either mode, larger reads will continue to go to CPU recovery.

[fq2bam\_meth](/tool-reference/tools/fq-2-bam-meth):

* Updated the default CPU threading configuration to values that are more optimal for end-to-end runtime: `--bwa-primary-cpus` now defaults to `16 * <number of GPUs>` and `--bwa-cpu-thread-pool` now defaults to `1`. Both options can still be set manually to override the defaults.

[rna\_fq2bam](/tool-reference/tools/rna-fq-2-bam):

* Performance improvement through code optimization.
* Added throughput metrics.

[haplotypecaller](/tool-reference/tools/haplotypecaller) and [mutectcaller](/tool-reference/tools/mutectcaller):

* Added multi-stream support with the `--num-streams-per-gpu` option, which controls the number of streams to use per GPU (default: 1).

[bamsort](/tool-reference/tools/bamsort), [deepsomatic](/tool-reference/tools/deepsomatic), [deepvariant](/tool-reference/tools/deepvariant), [haplotypecaller](/tool-reference/tools/haplotypecaller), [minimap2](/tool-reference/tools/minimap-2), [mutectcaller](/tool-reference/tools/mutectcaller), and [pangenome\_aware\_deepvariant](/tool-reference/tools/pangenome-aware-deepvariant):

* Added support for reading CRAM v3.1 file.

## Bug Fixes

[deepvariant](/tool-reference/tools/deepvariant), [deepsomatic](/tool-reference/tools/deepsomatic), and [pangenome\_aware\_deepvariant](/tool-reference/tools/pangenome-aware-deepvariant):

* Updated the logic used to determine valid mapped mates for a read, now mirroring Google DeepVariant.
* Added a better error message when header information is missing in the supplied input sample.
* Fixed a bug causing print statements to appear in incorrect order.

[pangenome\_aware\_deepvariant](/tool-reference/tools/pangenome-aware-deepvariant):

* Properly parse user-supplied pangenome sample and pangenome reference names.

[deepvariant](/tool-reference/tools/deepvariant), [deepsomatic](/tool-reference/tools/deepsomatic), [pangenome\_aware\_deepvariant](/tool-reference/tools/pangenome-aware-deepvariant), [haplotypecaller](/tool-reference/tools/haplotypecaller) and [mutectcaller](/tool-reference/tools/mutectcaller):

* Fixed invalid `.tbi` index generation in certain edge cases.
* Fixed an issue where a `.tbi` index could appear older than its corresponding data file.
* Fixed a BGZF writer crash during `vcf.gz` writing on records larger than 64 KB.

[haplotypecaller](/tool-reference/tools/haplotypecaller) and [mutectcaller](/tool-reference/tools/mutectcaller):

* Fixed a potential race condition and also ensure bit-identical results across architectures.

[mutectcaller](/tool-reference/tools/mutectcaller):

* Fixed an incorrect error message for invalid tumor/normal sample names.

[giraffe](/tool-reference/tools/giraffe-vg-giraffe-gatk):

* Fixed a possible crash when processing batches that contain only short reads (below 29 bp) that produce no minimizers.
* Fixed two potential out-of-bounds writes in the Dozeu alignment kernel.

[fq2bam](/tool-reference/tools/fq-2-bam-bwa-mem-gatk) and [fq2bam\_meth](/tool-reference/tools/fq-2-bam-meth):

* Fixed several GPU alignment edge cases involving empty chains, short-seed scoring, large-read scratch data, and reads with many seeds.
* Fixed paired-end long-read CPU recovery mode to allow reads longer than `--max-read-size-gpu` to be processed on CPU.
* Fixed a case that could result in a crash if all reads in a batch were below BWA-MEM's minimum seed length, which by default is 19 bp.

[minimap2](/tool-reference/tools/minimap-2):

* Fixed an out of bounds access caused by reads that skipped alignment in the `splice:sr` preset.
* Fixed a bug that could cause junction values to not be used in splice-aware alignments.

[fq2bam](/tool-reference/tools/fq-2-bam-bwa-mem-gatk), [fq2bam\_meth](/tool-reference/tools/fq-2-bam-meth), [minimap2](/tool-reference/tools/minimap-2), [rna\_fq2bam](/tool-reference/tools/rna-fq-2-bam), [bamsort](/tool-reference/tools/bamsort), and associated pipelines:

* Fixed a bug in the GPU CRAM writer that caused `samtools index` to fail on the GPU generated CRAM file.

For further information refer to the
[Parabricks datasheet](https://resources.nvidia.com/en-us-hc-genomics/healthcare-genomics).