What problem does it solve?
Running nf-core/sarek correctly requires hand-crafting samplesheets, choosing between iGenomes keys and explicit FASTA references, pairing tumor/normal statuses properly, and composing Nextflow profiles — mistakes that surface only as opaque mid-pipeline failures. This Skill validates everything before launch and produces a portable, checksummed reproducibility bundle for every run.
Core Features & Use Cases
- Strict preflight validation: Checks samplesheet structure per pipeline step, tool/mode compatibility (germline, tumor-only, paired somatic), reference availability, Java/Nextflow versions, and resume-state drift before Nextflow launches.
- Full sarek 3.8.1 surface: Exposes 154 audited passthrough parameters covering mapping, BQSR, variant calling (HaplotypeCaller, Mutect2, Strelka, Manta, ASCAT, and more), and VEP/SnpEff annotation, with profile composition for docker, singularity, arm64, gpu, and spark.
- Reproducibility and provenance: Every run emits params.yaml, a self-contained commands.sh replay script, manifest.json, checksums.sha256, and seven provenance JSON files, plus opt-in handoff to downstream clinical interpretation skills.
- Use Case: A researcher with tumor-normal paired WES FASTQs runs a somatic analysis with Mutect2, Strelka, and VEP annotation, then replays the identical run on a colleague's machine using the generated bundle.
Quick Start
Ask the agent to run nf-core/sarek germline variant calling on your samplesheet with HaplotypeCaller and VEP annotation using the GATK.GRCh38 genome, or request a demo run with the upstream test profile.