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SKILL.md

alphagenome-variant-impact-score

Agent skill fromgoogle-deepmind/science-skills

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.

How to install alphagenome-variant-impact-score

install alphagenome-variant-impact-score
# install the science-skills pack with the skills CLI
npx skills add google-deepmind/science-skills

# or add only this skill to Claude Code: copy the folder

skills/alphagenome_variant_impact_score/

# into

~/.claude/skills/alphagenome_variant_impact_score/ (all projects)

.claude/skills/alphagenome_variant_impact_score/ (one project)

skills/alphagenome_variant_impact_score/SKILL.md

Apache-2.0Full file
1# AlphaGenome Variant Impact (AVI) Analysis
2
3Score and prioritize genetic variants using AlphaGenome Variant Impact (AVI)
4models via `scripts/alphagenome_atlas_avi.py`.
5
6> [!IMPORTANT] **Research Use Only & Clinical Safety Rules**: The AlphaGenome
7> AVI Skill and the underlying AlphaGenome model/Atlas are **strictly research
8> tools**. Access to outputs requires an AlphaGenome API key subject to terms of
9> service prohibiting clinical use.
10>
11> 1. **No Medical Advice or Clinical Diagnosis**: You **MUST NOT** provide
12> medical advice, clinical diagnoses, disease management strategies, or
13> treatment recommendations based on outputs from this skill or the
14> AlphaGenome Atlas.
15> 2. **Strict Molecular & Functional Framing**: A high AVI score reflects
16> **predicted molecular/functional impact** (e.g., disruption of splicing,
17> alteration of transcription factor binding, chromatin accessibility
18> changes, or coding consequences). Frame all findings in terms of molecular
19> mechanisms and biological annotations—never as clinical diagnoses or
20> medical conclusions.
21> 3. **No Diagnostic Leaps**: Never extrapolate high functional impact to
22> clinical disease causation, penetrance, or patient prognosis. If a user
23> asks a clinical or diagnostic question, explicitly clarify that
24> AlphaGenome is a research tool and restrict your answer to the predicted
25> molecular and functional effects.
26…

Excerpt shown under the repository's Apache-2.0 license.

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