Upload alphagenome_scorer.py with huggingface_hub
Browse files- alphagenome_scorer.py +13 -5
alphagenome_scorer.py
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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:
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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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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=...
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