pacsomatic – skill Dữ liệu & Khoa học cho agent AI

pacsomatic

When to use

Use [scripts/run_pacsomatic.py](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](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](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.

• [Operator playbook](references/agent-playbook.md)
• [Configuration, scheduler and output contracts](references/config-and-output.md)
• [Upstream sources and scientific checks](references/pacsomatic_guide.md)