In this session, Dr Valentina Ferradini explores how the medical genetics laboratory team aim to diagnose rare disorders with Next Generation Sequencing and how the utilisation of AI-powered data interpretation solutions has helped to characterise the different genetic variants.
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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.
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Postdoctoral Researcher,
Tor Vergata University of Rome.
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Co-founder and CTO,
Nostos Genomics
