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onekgpd skill

by K-Dense-AI·K-Dense-AI/scientific-agent-skills·47k stars·MIT

Query the 1000 Genomes Project dataset (3,202 whole-genome-sequenced individuals, GRCh38) at the level of individual participants. Use when a question is about individuals or variants in the 1000 Genomes Project cohort: which individuals carry variants matching specific criteria in a gene or region, which individuals are homozygous-reference at a position, which variants exist in the dataset or carried by specified individuals in a gene or region, the relatedness between two specified individuals. Variants are returned with 1000 Genomes allele frequencies (AF), gnomAD v4.1 exome and genome AF, AlphaMissense score, and HGVSp annotations.

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Install the onekgpd skill

A skill is a folder. Copy it into your agent's skills folder and the agent loads it when the task matches its description.

git clone --depth 1 https://github.com/K-Dense-AI/scientific-agent-skills.git /tmp/scientific-agent-skills
mkdir -p ~/.claude/skills
cp -r /tmp/scientific-agent-skills/skills/onekgpd ~/.claude/skills/onekgpd
available in every project

In the Claude apps, zip the folder and upload it from the Skills settings. The folder on GitHub

The instructions your agent would load

SKILL.md as published, without the frontmatter. Read it on GitHub

OneKGPd: Individual-Level Queries over the 1000 Genomes Project

Scope

This skill queries the 1000 Genomes Project dataset — the extended high-coverage cohort of 3,202 whole-genome-sequenced individuals, on the GRCh38 assembly. All results are drawn from this cohort, and sample names returned by the skill (for example HG00096 or NA21130) identify its participants.

Queries resolve against the cohort's per-individual genotype data. This supports two complementary classes of question: selecting variants carried within a region (across the whole cohort or within a specified set of individuals), and selecting the individuals who carry variants matching given criteria. Variant selection can be filtered by allele frequency, predicted consequence, clinical significance, AlphaMissense classification, and the other annotation axes listed below. Relatedness between two named individuals is also available.

The genotype state in which a variant is carried — heterozygous or homozygous — is a criterion that queries may specify; results are returned as variants or as sample names, not as raw genotypes.

When to Use

Use this skill when you need to:

across the whole cohort (select-variants).

  • Find variants carried in a region or set of regions matching some criteria

in specific set of individuals (select-variants-in-samples).

  • Find variants carried in a region or set of regions matching some criteria

in a region or set of regions (select-samples).

  • Find which 1000 Genomes individuals carry variants matching some criteria

carriage, or query both together (default).

  • Count how many individuals carry specific variants (count-samples).
  • Restrict any variant query to heterozygous-only or homozygous-only

(select-samples-hom-ref).

  • Identify which individuals are homozygous reference at a single position

both the degree (twin / 1st / 2nd / 3rd / unrelated) and the KING kinship coefficient (kinship).

  • Determine the relatedness between two named 1000 Genomes individuals —

(dataset-info).

  • Get dataset totals — sample count, sex split, variant count, assembly

gnomAD 4.1 genome allele frequency, AlphaMissense Score and AlphaMissense Class, ClinVar significance (202502), and VEP annotations (impact, biotype, feature type, variant class, consequences).

  • Variant selection can be specified by KGP allele frequency, gnomAD 4.1 exome and

Do NOT use this skill for:

reference sequence. Resolve coordinates first (see Coordinate Provenance below), then query this skill with the resolved GRCh38 region.

  • Resolving a gene symbol, rsID, or transcript to coordinates, or fetching

dataset.

  • Any cohort other than the 1000 Genomes Project — this skill serves only that

Prerequisites

inline dependency metadata and provisions an ephemeral environment. Ensure uv is installed and on PATH (https://docs.astral.sh/uv/).

  1. uv: This skill's script is run with uv run, which reads the script's

aware of the 1000 Genomes Project / IGSR data-use terms (https://www.internationalgenome.org/data).

  1. Data use terms: The 1000 Genomes Project data is open; users should be

rate-limit token to configure.

  1. Access constraints: There is no API key, no .env file, and no
  1. No credentials required

Core Rules

constructing your own client calls or network requests. Use scripts/onekgpdapi.py for variant/sample/kinship queries (it handles the connection, streaming, pagination, and JSON serialization), and scripts/onekgpdmeta.py for sample/population metadata (offline, see Sample & population metadata).

  • Use the Wrappers: ALWAYS execute the provided helper scripts rather than

Coordinate Provenance. This is mandatory, not advisory.

  • Coordinates MUST be resolved against an authoritative source first — see

counting command. Call the count command FIRST to size the result set, then select only if the count is manageable.

  • Count before you select: every variant and sample selection has a paired

heterozygous and homozygous carriage by default. Narrow with --het-only or --hom-only when the question is specifically about one state. (You do not need to pass anything to get both.)

  • Zygosity defaults to both: selection and counting commands include both

/tmp/) and print a concise summary to stdout. Do not read large JSON files into context — use jq or a small disposable uv run python snippet to extract fields.

  • Output: scripts write full JSON to a file (--output, default under

Coordinate Provenance (MANDATORY FIRST STEP)

Before any region-based query, resolve the gene or feature to GRCh38 coordinates against an authoritative source (for example Ensembl), and query with those resolved coordinates. The assembly must be explicit, and a gene-range must be resolved to precise positions before use. This is structural, not advisory: there is no source-side guardrail that would catch a misplaced region, so an unverified coordinate produces results for an unintended location with no error.

# Resolve gene symbol -> GRCh38 region with an authoritative source FIRST,
# then pass the verified coordinates to the OneKGPd query below.

[!CAUTION]

The dataset is GRCh38. A GRCh37 coordinate, or any region that does not

correctly correspond to the intended feature on GRCh38, will return

results for an unintended location without raising an error. Verify the

assembly and the resolved coordinates before querying.

Command Selection Guide

Match the question to the command. Counting commands are cheap and should precede their selection counterpart.

then select-samples

  • Which individuals carry matching variants in a region → count-samples

then select-variants

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