In this session, Rocio Acuna-Hidalgo explores variant interpretation with AI: From filtering strategies, variant classification, the applications of AI for variant interpretation in research and diagnostics, as well as some interesting use cases and applications of AION - our AI-driven variant interpretation solution.
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We developed AION, a variant interpretation software platform for diagnostic WES and WGS.
AION provides fast, accurate, and interpretable variant interpretation across pediatric and adult cohorts, individuals with different monogenic conditions and individuals of different ethnicities. With our phenotype-driven prioritisation tool, we can solve cases in a fraction of the time while improving diagnostic yield.
AION‘s easy-to-use platform is changing the way labs can interpret genetic test results.
Co-founder and CTO,
Nostos Genomics