Article

An Actor-Critic Reinforcement Learning Framework for Variant Evidence Interpretation

2025-03-17

Abstract excerpt

We present a reinforcement learning (RL) framework that uses established genomic metrics – such as the GuRu score, variant/gene risk priors, and population frequency – to estimate the probability of observing a given genetic variant in disease. Importantly, our approach does not directly predict variant pathogenicity; instead, it quantifies the cumulative evidence supporting a variant’s clinical observability with...

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Literature Corpus work: a69fd4b6-c212-5fb7-a649-d7b2a7d439dd
DOI: 10.1101/2025.03.14.25323954

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