onekgpd

What problem does it solve?

It removes the friction of manually exploring 1000 Genomes Project data by turning cohort queries, variant lookups, and sample selection into repeatable, precise workflows.

Core Features & Use Cases

• Variant discovery and counting: Count or list variants across GRCh38 regions, either cohort-wide or restricted to named samples.
• Participant-level analysis: Identify which individuals carry matching variants, which are homozygous reference at a position, and how closely two samples are related.
• Offline cohort metadata: Look up sample pedigrees, populations, and superpopulations from the bundled dataset without network access.
• Use case: A researcher can resolve a gene to coordinates, find likely pathogenic variants in that interval, then narrow the results to a specific population and inspect the carriers.

Quick Start

Ask the skill to query the 1000 Genomes Project for a GRCh38 region or sample set you already resolved and specify whether you want counts, matching individuals, or the underlying variants.