Software Development
AlphaGenome Single Variant Analysis
Analyzes genetic variant effects on gene expression (RNA-seq), chromatin accessibility (DNASE), histone marks (ChIP), and transcription factors using the AlphaGenome API. Use when the user asks about non-coding variant effects, pathogenicity, clinical significance, disease associations, functional effects, gene expression changes, splicing disruption, or regulatory effects in promoters and enhancers. Also use for resolving biological terms to tissue/cell-type ontologies (UBERON/CL) or analyzing variants in chr:pos:ref>alt format.
- Publisher / source
- google-deepmind/science-skills (found on skills.sh)
- Upstream record
- google-deepmind/science-skills
- Version
- Version 1
- Published
- Publication review
- Approved for publication
- Content fingerprint
bd663b06a6b0188342244d7f19259ed993f7bbe33cf6062dcac5d244322b05ee