Medical & Healthcare
AlphaGenome Variant Impact Score
Score, annotate, and analyze the functional impact of genetic variants using AlphaGenome Variant Impact (AVI) scores. Query variants in chr:pos:ref>alt format, annotate VCF/tabular callsets, perform saturation mutagenesis window scans (1-based closed chr:start-end), and extract GENCODE v46 GTF gene/exon/junction coordinates all via the AlphaGenome Atlas API.
- Publisher / source
- google-deepmind/science-skills (found on skills.sh)
- Upstream record
- google-deepmind/science-skills
- Version
- Version 5
- Published
- Publication review
- Approved for publication
- Content fingerprint
047e0b38f3ebbd56cf966c3263b86992d6101cbf4da501e113c19455468473fb