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".
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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 skill workflow involves searching literature via PubMed and EuropePMC, which can ingest outsider-authored free text from abstracts and articles.
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.
The instruction references `git+https://github.com/evolutionaryscale/esm@ee891c52` to install an unmerged feature branch, which constitutes a weak external runtime dependency under the dependency gate rules.
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