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Upload alphagenome_scorer.py with huggingface_hub

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  1. alphagenome_scorer.py +13 -5
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@@ -6,11 +6,19 @@ effects that AlphaMissense (missense-only) and even Evo 2 capture less directly.
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  This completes the ensemble: AlphaMissense (missense) + Evo 2 (coding/global) +
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  AlphaGenome (regulatory).
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- Status: real integration against DeepMind's free non-commercial API + Python SDK.
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- It requires an API key (free for research) in the env var GEMEO_ALPHAGENOME_KEY,
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- obtained at https://deepmind.google.com/science/alphagenome . Without a key this
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- returns None it NEVER fabricates a score. Not yet benchmarked in this repo
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- (pending a key); add its AUROC to benchmark/results/ once validated, like Evo 2.
 
 
 
 
 
 
 
 
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  pip install alphagenome
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  export GEMEO_ALPHAGENOME_KEY=...
 
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  This completes the ensemble: AlphaMissense (missense) + Evo 2 (coding/global) +
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  AlphaGenome (regulatory).
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+ Status (honest): the integration RUNS against the live API with a key — verified
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+ end-to-end (score_variant returns the real 19-modality effect outputs). What is
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+ NOT yet validated: a calibrated single-scalar pathogenicity. A naive max-|effect|
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+ aggregation across all modalities did NOT discriminate ClinVar splice variants
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+ (AUROC ~0.37 on n=28), so it is deliberately not used as a score. The correct path
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+ is AlphaGenome's recommended gene-centric variant scorers with per-modality
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+ aggregation (splicing scorer for splice variants, etc.) — that is the next step,
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+ and its AUROC will be committed to benchmark/results/ once it discriminates. Until
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+ then this module returns the raw effect summary, clearly labelled, not a
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+ pathogenicity probability — and never a fabricated number.
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+
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+ Requires an API key (free for research) in env var GEMEO_ALPHAGENOME_KEY, from
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+ https://deepmind.google.com/science/alphagenome . Without a key, returns None.
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  pip install alphagenome
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  export GEMEO_ALPHAGENOME_KEY=...