L’interface est localisée ; les présentations et documents des Skills sont traduits automatiquement par IA dans votre langue. Le code, les commandes, chemins et termes techniques restent en version originale, et le document de l’auteur fait foi.
Explorer les Skills
Productivité · SKILL.md

pipeline-stages

pipeline-stages

Understand and adapt DeepVariant make_examples, call_variants, postprocess_variants, sharded TFRecords, and gVCF stage contracts.

Independent GitHub snapshot · Automated classification · Original documentation governs

Documentation de la Skill

GitHub

name: pipeline-stages description: "Understand and adapt DeepVariant make_examples, call_variants, postprocess_variants, sharded TFRecords, and gVCF stage contracts." disable-model-invocation: true metadata: disco-role: operating license: BSD 3-Clause

DeepVariant Pipeline Stages

Use this sub-skill when a user needs to inspect, adapt, or troubleshoot DeepVariant below the high-level wrappers: make_examples, call_variants, postprocess_variants, sharded TFRecords, gVCF non-variant records, candidate positions, channel lists, or wrapper *_extra_args routing.

Route complete single-sample command recipes to ../germline-calling/SKILL.md, family workflows to ../trio-calling/SKILL.md, pangenome GBZ workflows to ../pangenome-aware-calling/SKILL.md, training dataset/model work to ../training-custom-models/SKILL.md, and report generation to ../analysis-visualization/SKILL.md.

Start Here

  1. Identify whether the user is starting from a wrapper --dry_run, a failed low-level command, or a custom stage-by-stage plan.
  2. Map each intermediate path through references/stage-contracts.md: make_examples writes examples and optional non-variant TFRecords; call_variants writes CallVariantsOutput TFRecords; postprocess_variants writes final VCF and optional gVCF.
  3. Validate sharded specs before discussing execution with scripts/sharded_path_helper.py; do not run Docker, Bazel binaries, TensorFlow inference, or genomics IO unless the user confirms the environment and data.
  4. Check data and metadata assumptions in references/data-formats.md, including .example_info.json, channel lists, Nucleus sharding conventions, sorted/indexed inputs, and gVCF dataflow.
  5. Use references/troubleshooting.md for invalid @N paths, missing --task, mode confusion, gVCF pairing errors, contig mismatches, resource pressure, or compiled-extension imports.

Bundled References

  • references/stage-contracts.md explains stage boundaries, required flags, wrapper dry-run mapping, --mode, --task, --examples, --checkpoint, dynamic CallVariantsOutput sharding, --postprocess_cpus, candidate-sweep mode, and extra args.
  • references/data-formats.md explains sharded files, TFRecord payloads, .example_info.json, channel lists, candidate positions, gVCF non-variant records, VCF/gVCF outputs, and Nucleus IO assumptions.
  • references/troubleshooting.md maps common stage-level symptoms to checks and recovery steps.
  • ../../references/install-and-runtime.md covers official Docker/Bazel runtime constraints and why lightweight package imports are not production execution.
  • ../../references/model-and-data-compatibility.md covers model, reference, reads, index, assay, and contig compatibility.
  • ../../references/troubleshooting.md covers cross-cutting installation, container, and data failures.

Safe Helper

Run the bundled helper to explain or expand sharded path specs without reading genomics data:

python scripts/sharded_path_helper.py --spec examples.tfrecord@32.gz --task 7 --paired-gvcf gvcf.tfrecord@32.gz

The helper prints the logical shard count, concrete shard filenames, glob pattern, task-specific filenames, and warnings for common DeepVariant mistakes such as @0, suspicious suffixless specs like examples.gz@32, mismatched --examples/--gvcf shard counts, or using examples@32.gz without per-task execution.

Decision Rules

  • Treat filename@N.ext as a logical collection, not a literal file to open; task i writes or reads filename-0000i-of-000NN.ext.
  • Pair sharded make_examples --examples with one --task per integer 0..N-1; high-level wrappers usually generate this task loop for you.
  • Keep gVCF stage arguments paired: make_examples --gvcf is valid only in calling mode, and postprocess_variants needs both --nonvariant_site_tfrecord_path and --gvcf_outfile.
  • Use wrapper --make_examples_extra_args, --call_variants_extra_args, and --postprocess_variants_extra_args only for flags owned by that stage; verify extra args do not override wrapper-set paths unintentionally.
  • Expect full stage execution to require official DeepVariant binaries, TensorFlow, compiled Nucleus/DeepVariant modules, and user genomics data; this sub-skill provides planning and lightweight validation by default.

Evidence Basis

This sub-skill distills DeepVariant r1.10 stage docs, gVCF support notes, fast-pipeline guidance, make_examples, call_variants, postprocess_variants, shared sharded file utilities, constants, and related unit tests. Source evidence is provenance only; runtime instructions here are self-contained.

Skills enregistrées