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肿瘤与正常样本长读长研究流程

使用 nf-core/pacsomatic 准备配对肿瘤与正常 PacBio HiFi 样本,组织样本表、Nextflow 启动材料和研究检查。

开源精选医疗业务10 个文件50,135 Stars浏览次数 0K-Dense-AI/scientific-agent-skills MIT版本 a1043ef
开始使用

适用环境: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.

输入资料
获准使用的配对 HiFi BAM 样本 参考资料与 Nextflow 运行环境 阅读本节完整说明
交付内容
研究流程启动材料 样本表、参数与检查记录 阅读本节完整说明
  1. 获取完整包,保留配套文件的目录结构。
  2. 按照原文准备所需工具、依赖与输入资料。
  3. 阅读对应使用步骤与输入输出说明,在自己的环境中验证结果。

使用提示摘自原文,配套文件保留来源版本;实际运行条件以各包说明为准。

正文

获取原文件

references/agent-playbook.md

  1. Establish one true matched PacBio HiFi tumor/normal pair from acquisition metadata. Require patient and sample IDs; do not invent clinical identifiers.
  2. Select a reference with exact assembly, contig naming and resource provenance. FASTA alone does not supply VEP, SV annotation, clonality or signature resources.
  3. Prepare artifacts with the helper's --dry-run and --use-current-path. Report each warning and separate file/name checks from unperformed BAM, schema, network, container and scheduler checks.
  4. Review samplesheet.csv: tumor status 1, normal status 0, same patient, distinct samples/files. Confirm that optional .pbi indexes correspond to their BAM. Confirm that MM/ML modification tags survived input processing before expecting methylation results.
  5. Review commit pin, params, profiles and generated shell script. Read local infrastructure configuration before launch. --executor slurm by itself does not set the task executor to Slurm. Default config.yaml is descriptive and is not loaded by Python.
  6. Execute only when requested. A new run uses --run; reusing generated artifacts needs --overwrite. If using a local checkout, record git HEAD and any uncommitted diff separately and omit --pipeline-version.
  7. Return the exact artifact/script paths, run type and checked scope, requested pipeline revision, submission job ID if parsed, and one next QC/triage action. Do not label a queued job complete or helper dry-run as pipeline validation.
  8. On failure, preserve the driver log, .nextflow.log, work task logs, params and samplesheet. Do not delete work/cache before deciding whether to resume. Keep secrets and identifiable sequencing metadata out of shared logs/reports.

All example commands in the main skill use repository-root paths. When the skill is installed elsewhere, resolve scripts/run_pacsomatic.py relative to its skill directory; .github/skills/pacsomatic is not this repository's layout.

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