ScienceSkills
Genomics & Sequencing

pacsomatic

Prepares and launches nf-core/pacsomatic matched tumor-normal PacBio HiFi genomics workflows from unaligned BAM inputs. Supports samplesheet generation, pinned Nextflow launch artifacts, local checks, LSF/Slurm/PBS Pro/SGE launcher submission, and startup troubleshooting. Use for pacsomatic run preparation and execution, not general short-read somatic analysis or medical imaging PACS.

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This is a readable source snapshot, not a hosted execution service. Review the upstream files and your agent’s loading rules before installation.

  1. Get the repository and inspect SKILL.md and its referenced files.
  2. Copy the complete skill folder into your agent’s documented skill directory. The directory depends on your agent.
  3. Install the dependencies specified by the skill. API access, data and compute may carry separate costs.
  4. Start with a small input and verify the output before running a full analysis.
Repository download and setup guide →

A prompt to adapt

I want to use the pacsomatic skill for [research task]. Read its SKILL.md and referenced files first. Ask about my input data, expected output and environment. Identify dependencies and credentials before proposing steps. Start with a small example and state how I can check the result.

License (source snapshot)MIT
Compatibility (source snapshot)Requires Python 3.10+ for the standard-library helper. Execution requires Bash, Nextflow >=24.04.2, a compatible Java runtime (current Nextflow supports Java 17-26), the selected container runtime and optionally a scheduler. Network access is needed for uncached pipeline code, plugins, references and containers.
Skill version (source snapshot)1.4
Last reviewed (source snapshot)2026-10-01
Author (source snapshot)Beifang Niu
Source transparency
Documentation recovered from the site snapshot dated 17 October 2026. Upstream version fields below are source claims, not a new verification by ScienceSkills. No execution benchmark is claimed.

Skill documentation

pacsomatic

When to use

Use scripts/run_pacsomatic.py to prepare one matched PacBio HiFi tumor/normal pair, generate a samplesheet and reproducible launch artifacts, and launch locally or submit the Nextflow driver to a scheduler. The pipeline realigns input BAMs; this helper targets unaligned HiFi BAMs and optional PacBio .pbi indexes. Do not substitute short reads or treat a BAM filename as evidence of platform, matched identity, or methylation information.

The reviewed upstream dev commit is 24c84cb371b0339c1d65a4de9451671945e19772. GitHub had no releases or tags on 2026-10-01, despite the internal manifest saying 1.0.0. The helper pins that commit by default for nf-core/pacsomatic; it does not invent a release tag. This is a source-reviewed development workflow, not a clinically validated assay. See references/pacsomatic_guide.md for sources and scientific checks.

Workflow

  1. Obtain distinct tumor and normal BAM paths, patient ID, distinct sample IDs, output directory, and exactly one reference mode: --fasta or --genome. IDs and BAM/PBI/FASTA paths must have no whitespace. Local inputs must be nonempty regular files. Remote BAM/PBI/FASTA URIs are passed through without downloading or authenticating; use managed filesystem/cloud credentials, never embed secrets or signed URLs in generated files.
  2. Confirm PacBio HiFi read groups and sample identity from acquisition metadata; confirm that MM/ML modification tags needed for methylation have been retained. Verify reference sequence/contig compatibility for every annotation resource.
  3. Generate artifacts with --dry-run. This performs helper checks and writes files, but does not invoke the pipeline, validate BAM contents, check remote availability, resolve every pipeline parameter, or verify biological suitability. Missing runtime tools are warnings here. --dry-run cannot be combined with --run/--submit, cloning, or environment creation.
  4. Review samplesheet, generated params YAML, script, pipeline revision, profiles, and branch-specific resources/skips. Existing artifacts require explicit --overwrite; input files can never be artifact targets. config.yaml is an operator reference, not an automatically loaded configuration file.
  5. For execution, select the actual runtime with --use-current-path or an existing --conda-env. Load cluster modules before invoking the helper; --module-load only repeats those commands in the generated script. No Conda YAML is bundled; creating an environment needs --conda-env-file explicitly.
  6. Use --run only for requested execution. For HPC, distinguish the outer launcher scheduler (--executor) from Nextflow's per-task process.executor, configured by a site profile or --nextflow-config. Driver CPU/memory requests do not constrain task resources. Read references/config-and-output.md.
  7. Report artifact paths, revision, checks/warnings, run type, submission ID if present, and a concrete next QC or failure-triage step. Scheduler acceptance is not pipeline completion. Keep the output directory and work/cache state stable for --resume; scripts run with the output directory as their cwd.

Examples

Run these from the repository root. Paths and site settings are illustrative; local tests use synthetic placeholders only, not human genomic data.

python skills/pacsomatic/scripts/run_pacsomatic.py \
  --tumor-bam /data/P001_T.bam --normal-bam /data/P001_N.bam \
  --patient-id P001 --tumor-sample-id P001_T --normal-sample-id P001_N \
  --outdir /results/P001 --fasta /refs/GRCh38.fa \
  --profile apptainer --use-current-path --dry-run

After reviewing artifacts, a Slurm launch can use the same inputs plus the following options (replace --dry-run with --run):

--executor slurm --queue compute --project my_account
--cpus 2 --memory-gb 8 --walltime 48:00
--nextflow-config /configs/slurm.config --overwrite --run

Those resources are for the driver, assuming the reviewed infrastructure config sets process.executor = 'slurm' and suitable task queue/resources. The helper normalizes 48:00 to Slurm 48:00:00 (48 hours). Do not add a sanger profile unless actually using that institution's LSF infrastructure.

Custom pipeline parameters go in --params-file; infrastructure goes in --nextflow-config (-c). The helper's explicit input/outdir/reference options win over params-file values. --extra-args is tokenized and shell-quoted, but cannot override these managed inputs/configuration options. Keep paths inside external params/config files absolute because the launcher cwd is the outdir.

Verification and references

uv run skills-ref validate skills/pacsomatic
python tests/run_all.py --isolated pacsomatic

The standard-library suite checks local artifact behavior, path protections, CLI modes, runtime failures and mocked scheduler submissions. Native Nextflow checks use a tiny local workflow; they do not establish that pacsomatic's full containerized scientific pipeline succeeds on a given dataset or cluster.

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