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skills/parabricks/references/pbrun-pangenome_aware_deepvariant.md
4.24 KB · Oct 5, 2026 · 18:30 UTC
# Parabricks pangenome_aware_deepvariant Use this reference for NVIDIA Parabricks `pbrun pangenome_aware_deepvariant` — pangenome-aware DeepVariant germline calling from reads/alignments and a pangenome graph to VCF/gVCF. ## First Steps 1. Confirm the Parabricks version or container tag and verify this tool is present in that version. 2. Confirm the user wants pangenome-aware DeepVariant rather than standard `deepvariant` or `pangenome_germline`. 3. Collect required inputs: - Reference FASTA and pangenome graph/resource bundle. - Input reads or alignments as supported by the selected version. - Output VCF/gVCF or output directory. - Model/resource bundle when required. 4. Ask whether `prepon`, `postpon`, or `giraffe` outputs are expected inputs. 5. For runtime readiness, see `runtime-environment.md`. ## Command Shape ```bash docker run --rm --gpus all \ --volume /host/input:/workdir \ --volume /host/output:/outputdir \ --workdir /workdir \ nvcr.io/nvidia/clara/clara-parabricks:<version> \ pbrun pangenome_aware_deepvariant \ <version-specific-pangenome-resource-options> \ <version-specific-input-options> \ <version-specific-output-options> ``` Verify exact flags against the version-specific reference before finalizing; this tool is listed separately in the current alphabetical tool index. ## DeepVariant/Pangenome Option Mapping Use this mapping when translating a Google DeepVariant workflow that consumes pangenome-aware inputs to `pbrun pangenome_aware_deepvariant`. This is not a drop-in replacement for standard `pbrun deepvariant`; graph and pangenome resource flags are part of the command surface. | Baseline option | `pbrun pangenome_aware_deepvariant` equivalent | Notes | | --- | --- | --- | | DeepVariant `--ref` | `--ref` | Linear reference FASTA; must match pangenome resources. | | DeepVariant `--reads` | `--in-bam` or selected input flag | Prepared pangenome-aware alignment input when supported. | | Pangenome graph input | `--pangenome` or version-specific graph/resource flag | Verify exact resource flag names in the selected version. | | DeepVariant `--output_vcf` | `--out-variants` | VCF/gVCF output. | | DeepVariant `--output_gvcf` / gVCF mode | `--gvcf` plus `--out-variants` | Output path extension controls VCF/gVCF naming when documented. | | DeepVariant custom model | `--pb-model-file`, `--pb-small-model-file` | Parabricks TensorRT model files where supported. | | DeepVariant regions | `--interval` or `--interval-file` | Verify interval support for the selected pangenome workflow. | | DeepVariant make-examples options | Matching explicit Parabricks flags where documented | Use only flags listed in the selected Parabricks tool reference. | | Standard DeepVariant options not listed here | No direct equivalent | Not exposed by current Parabricks docs for this pangenome-aware tool. | ## pangenome_aware_deepvariant Options Without DeepVariant Equivalents | `pbrun pangenome_aware_deepvariant` option | Why it has no standard DeepVariant equivalent | | --- | --- | | Pangenome graph/resource input flags | Standard DeepVariant is linear-reference based. | | `prepon`/`postpon` workflow handoff flags | Parabricks-specific pangenome preprocessing/postprocessing integration. | | GPU graph/pangenome runtime controls | Parabricks GPU implementation tuning. | | Parabricks TensorRT model-file controls | Parabricks model deployment differs from Google DeepVariant's Keras/TensorFlow runtime. | | `--logfile`, `--x3` | Parabricks wrapper logging and full-argument display. | | `--with-petagene-dir`, `--keep-tmp`, `--no-seccomp-override`, `--preserve-file-symlinks` | Parabricks wrapper filesystem/container controls. | | `--num-gpus` | Parabricks GPU count. | ## Validation - Pangenome resources, reference, model/resources, and input files are compatible. - Output VCF/gVCF or output directory exists. - Logs do not show missing graph resources, model errors, reference mismatch, mount, CUDA, or memory errors. ## Guardrails - Do not treat this as standard `deepvariant`. - Do not infer resource compatibility across pangenome bundles. - Verify current docs before recommending any optional flags. ## Key References - <https://docs.nvidia.com/clara/parabricks/latest/documentation/tooldocs/man_pangenome_aware_deepvariant.html>
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