I know that this question is not directly related to alphagenome but anyway: I have hundreds of samples (with potentially pathogenic variants) annotated with HPO terms (https://hpo.jax.org/), and want to automatically calculate alphagenome variant effects for all of them. The only problem is how to assign HPO terms to ontology curies. Isnt there any automatic tool for this? So given some HPO terms for a patient as input, it would output ontology curie terms.
Hi @Miroslav_Sabo,
Sorry, I’m not aware of any tool to map HPO terms to ontology curies. If you find one do let us know!
Tom
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