Data Science & Analytics

Onekgpd

The Onekgpd skill queries the 1000 Genomes Project dataset, providing detailed information on individual participants and their variants within the GRCh38 reference. It returns variant allele frequencies from 1000 Genomes, gnomAD v4.1 exome and genome, AlphaMissense scores, and HGVSp annotations, enabling researchers to identify carriers, homozygous-reference individuals, and relatedness between specified participants. This tool is essential for genomic studies that require precise, individual-level variant data from the 1000 Genomes cohort.

Publisher / source
Scientific Agent Skills
Upstream record
K-Dense-AI/scientific-agent-skills
Version
Version 5
Published
Publication review
Approved for publication
Content fingerprint
6a7c0a90c42e899e818de866e843cf60d5434422fa69b910a7db9a06f25240e9