Data Science & Analytics
gnomAD Database
Query the Genome Aggregation Database (gnomAD). Use when determining the rarity or allele frequency of specific genetic variants, retrieving gene constraint metrics (pLI, LOEUF) to assess loss-of-function intolerance, finding variants in a genomic region or gene, or querying structural variants. Don't use for analyzing individual patient genomes, tracking somatic mutations in cancer (use COSMIC), or requesting raw sequencing reads (use ENA).
- Publisher / source
- google-deepmind/science-skills (found on skills.sh)
- Upstream record
- google-deepmind/science-skills
- Version
- Version 2
- Published
- Publication review
- Approved for publication
- Content fingerprint
f2082c83ddca825e0c336097c6b59a9237d99a33887577cd90fc574f1d3bc18b