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variant-datasets

variant-datasets

Use Hail VariantDataset sparse sequencing workflows: read, filter, QC, combine GVCFs, convert VDS representations, and reason about local alleles and reference blocks.

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Documentation de la Skill

GitHub

name: variant-datasets description: "Use Hail VariantDataset sparse sequencing workflows: read, filter, QC, combine GVCFs, convert VDS representations, and reason about local alleles and reference blocks." disable-model-invocation: true metadata: disco-role: operating license: MIT

Hail Variant Datasets

Use this sub-skill when a task mentions hail.vds, VariantDataset, VDS, sparse sequencing data, GVCF combining, local allele fields (LGT, LA, LAD, LPL, LPGT), reference blocks (END or LEN), to_dense_mt, to_merged_sparse_mt, interval_coverage, or VDS-native sample_qc.

Route First

  • Use references/vds-workflows.md to choose between component matrices, dense conversion, merged sparse conversion, sample QC, interval coverage, filtering, split-multi, and GVCF combiner recipes.
  • Use references/api-reference.md for concise hail.vds signatures, parameter notes, component field semantics, and combiner API details.
  • Use references/troubleshooting.md for local allele mistakes, reference block END/LEN issues, component mismatch, combiner resume/save failures, interval/reference mismatch, and dense conversion surprises.
  • Start new runnable examples from scripts/vds_recipe_template.py; it is a self-contained helper that defaults to dry-run/template output and does not depend on repository fixtures.

Scope Boundaries

  • Stay here for hl.vds.VariantDataset, hl.vds.read_vds, hl.vds.filter_samples, hl.vds.filter_variants, hl.vds.filter_intervals, hl.vds.filter_chromosomes, hl.vds.sample_qc, hl.vds.split_multi, hl.vds.interval_coverage, hl.vds.to_dense_mt, hl.vds.to_merged_sparse_mt, hl.vds.new_combiner, and hl.vds.load_combiner.
  • Route ordinary dense MatrixTable GWAS, VCF/PLINK/BGEN analysis, row/column/entry transformations, and dense QC after VDS conversion to ../genomics-analysis/SKILL.md.
  • Route backend sizing, hl.init, Spark/local/Batch backend selection, cloud filesystem credentials, requester-pays, and cluster planning to ../setup-and-backends/SKILL.md.
  • Route hailctl, Hail Batch DAG orchestration, Batch Service jobs, and CLI monitoring to ../batch-and-cli/SKILL.md unless the task is specifically about VDS API calls.

Default Mental Model

A hl.vds.VariantDataset is a wrapper around two sparse component MatrixTables, not a single MatrixTable:

  • vds.reference_data is keyed by locus, has the sample column key, and stores reference blocks. Each entry covers locus.position through inclusive END, or equivalent LEN; calls are implicitly homozygous reference.
  • vds.variant_data is keyed by locus, alleles, has the same sample columns, and stores sparse non-reference or variant rows. Entries commonly use local allele fields such as LA, LGT, LAD, LPL, and LPGT.

Choose representation deliberately: use components for sparse variant or coverage work, use hl.vds.sample_qc and hl.vds.interval_coverage before considering densification, use hl.vds.to_dense_mt(vds) only for downstream dense-only methods, and use hl.vds.to_merged_sparse_mt(vds) when a single sparse MatrixTable is needed.

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