Individual skill
onekgpd
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.
backend/cli/skills/databases/onekgpd/SKILL.md
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- Last checked
- Nov 2, 2026
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- Repository last updated
- Nov 6, 2026
- License
- Apache-2.0
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# 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,