AlphaGenome Single Variant Analysis

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Predict genomic variant impacts on gene expression and regulatory elements with precision.

What it does

Alphagenome Single Variant Analysis allows your assistant to evaluate the functional consequences of specific DNA mutations. It bridges raw variant data with complex biological outcomes, offering insight into how changes at a precise genomic location influence transcription, chromatin accessibility, and histone modification patterns.

By integrating this skill, the assistant gains the ability to process variants formatted in standard chromosomal coordinates. It translates these inputs into high-resolution predictions regarding gene regulatory mechanisms and potential clinical significance, moving beyond simple annotation to provide a functional perspective on non-coding and coding mutations.

When it earns its place

Reach for it when…

Apply this when you need to assess the potential impact of a single nucleotide variant on regulatory networks or gene expression levels, particularly in tissue-specific contexts involving enhancers or promoters.

Look elsewhere when…

Do not use this for large-scale cohort analysis or genome-wide association studies (GWAS) involving thousands of variants simultaneously, as the tool is optimized for detailed, individual variant assessments rather than high-throughput population statistics.

What to say to use it

You never invoke a skill directly — the assistant picks it up when your request matches what it covers. These are the kinds of things that do that.

  • What effect does this variant have on gene expression in heart tissue?
  • Check the functional impact of chr12:112000:A>G on nearby enhancers.
  • Is this non-coding variant predicted to disrupt transcription factor binding?
  • Analyze the potential pathogenicity of this specific single nucleotide change.

Install it

Install for all your projects

Copy the skill directory into your personal skills folder. Claude picks it up on its own the next time your request matches what it does — there is nothing to enable.

bash
git clone --depth 1 --branch main https://github.com/google-deepmind/science-skills.git /tmp/science-skills
mkdir -p ~/.claude/skills
cp -r /tmp/science-skills/skills/alphagenome_single_variant_analysis ~/.claude/skills/alphagenome-single-variant-analysis

Install for one project only

Put it in the project's own skills folder instead, so it can be committed and shared with everyone working on that repository.

bash
cp -r /tmp/science-skills/skills/alphagenome_single_variant_analysis .claude/skills/alphagenome-single-variant-analysis

If a skill of the same name exists in both places, the personal one wins.

Installing on Claude.ai or through the API instead? The full guide covers every surface.

Pair it with an MCP server