Data Science & Analytics
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.
- Publisher / source
- KalarisLabs/research-agent-skills (found on the CSV list)
- Upstream record
- KalarisLabs/research-agent-skills
- Version
- Version 2
- Published
- Publication review
- Approved for publication
- Content fingerprint
b837abd2e93af6c68053d6783439fdb5a2f0f5439b1586de0f596df80092414e