Harnessing AI to improve diagnostic yield | ESHG 2023 Corporate satellite

Hear from industry experts who share valuable insights:

  • ​Michael Blum​ will demonstrate how AI enhances rare disease diagnosis by leveraging joint analysis of exome (or genome) and phenotypes.
  • Julien Thevenon will discuss his approach to rare disease diagnosis using exome sequencing and the challenges of integrating phenotype and symptom information.
  • Kévin Yauy will explain how to address inconsistent phenotype reporting and present a machine-learning system that models symptom interactions in genetic diseases.
  • Geoffroy Delplancq will showcase the utilization of the SeqOne platform in his medical practice.
  • Laurent MESNARD will present clinical validation results of SeqOne’s AI approach for diagnosis on 1200 exomes in nephrology, highlighting how an AI-driven platform supports the diagnostic process.

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