Clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Use for VUS classification, pathogenicity assessment with cited criteria, structure-based variant impact (AlphaFold/PDB), non-coding/regulatory variant effect prediction with sequence deep-learning models (AlphaGenome, Enformer, Borzoi, ChromBPNet, Evo 2), and producing clinical-grade variant reports for return of results or molecular tumor boards. Use this whenever a user asks about a variant's significance, an intronic/promoter/enhancer/UTR non-coding variant's functional impact, or needs ACMG classification — even if they don't say "ACMG".
89%
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Low-risk findings worth noting
The skill exposes the agent to untrusted, user-generated content from public third-party sources, creating a risk of indirect prompt injection. This includes browsing arbitrary URLs, reading social media posts or forum comments, and analyzing content from unknown websites.
The workflow requires fetching and ingesting external literature searches from PubMed, EuropePMC, BioRxiv, MedRxiv, OpenAlex, and Semantic Scholar, which return outsider-authored free text.
The skill fetches instructions or code from an external URL at runtime, and the fetched content directly controls the agent’s prompts or executes code. This dynamic dependency allows the external source to modify the agent’s behavior without any changes to the skill itself.
An explicit remote repository locator and setup command (`pip install 'esm @ git+https://github.com/evolutionaryscale/esm@ee891c52'`) is instructed for runtime installation of code with weak/unofficial provenance, satisfying the dependency gate.
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