Trust and Transparency: Navigating AI in Rare Disease Diagnostics
Genomic data is expanding rapidly. AI offers vital tools to streamline variant interpretation, but deploying it requires absolute clinical trust, rigorous compliance, and transparent decision-making.
Our webinar, "AI in Clinical Genomics: Accuracy, Transparency, and Trust in Rare Disease Diagnostics," features experts Nathalie Beslay (naaia.ai), Nicolas Duforet (SeqOne), and Pablo Botas (SeqOne). They explore how the SeqOne Platform utilizes responsible AI to reshape rare disease diagnostics while meeting strict clinical standards.
In this essential webinar, you will discover:
- 81% First-Rank Accuracy: How unified scoring frameworks evaluate SNVs and structural variants on a single scale, proven on whole-genome cases from the 100,000 Genomes Project.
- Regulatory Compliance: What the EU AI Act actually requires of clinical genomics software and how labs can prepare for upcoming regulatory demands.
- Explainable AI: What transparency looks like when a patient's diagnosis is on the line, ensuring machine learning outputs are clear and clinically valid.
Meet the Speakers
Nathalie Beslay CEO and Co-Founder at naaia.ai. A healthcare compliance expert and specialized lawyer since 1997, she has served as a bioethics advisor to the French secretary of state for health.
Nicolas Duforet, PhD Director of Data Science at SeqOne. He leads the development of DiagAI, the company's explainable AI engine, and holds a doctorate in computational statistics with research experience from UC Berkeley.
Pablo Botas VP of Product, Rare and Inherited Diseases at SeqOne. A physicist by training, he completed his doctoral research at Harvard Medical School and previously built certified AI diagnostic software.
Gain a deeper understanding of AI compliance, precision, and clinical application from these pioneers.
