Reducing complexity in variant interpretation through AI: clinical validation of AION

Reducing complexity in variant interpretation through AIOUR LATEST WHITE PAPER: A CLINICAL VALIDATION STUDY OF AION ON THE GENOMIC ENGLAND 100.000 GENOMES PROJECT.Our latest white paper covers developments in AI and genomics, as well as our clinical validation study of AION, our AI-driven platform supporting variant interpretation scientists. We uncover answers to key questions in rare disease genomics:

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• What are the current barriers to accurate variant interpretation?
• What is the role of artificial intelligence in scaling variant interpretation?
• How does AION modernise genomic testing for rare diseases?

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