SeqOne at ESHG 2023: A.I. for Diagnostics

We will be hosting a corporate satellite on Monday, June 12, 2023 – 14.00 – 15.30 BST : “Harnessing AI to improve diagnostic yield with large-scale NGS data“

Location: room Alsh 1, level 0.

During our seminar you will learn how our latest advances in Artificial Intelligence and genomics enable us to revolutionize the way you diagnose rare diseases. Our speakers will cover a range of topics, including exome sequencing, phenotyping, machine learning, and clinical validation.

Speakers:

• Laurent Mesnard, Head of Nephrology, AP-HP Hospitals
• Julien Thevenon, Professor of Genomics, Grenoble Hospital / interpretation coordinator of the French National Genomics program’s AURAGEN lab
• Kevin Yauy, MD, Precision medicine & AI specialist, Clinician, Montpellier Hospital
• Geoffroy Delplancq, Medical Geneticist, Versailles Hospital
• Michaël Blum, Head of R&D, SeqOne Genomics

Download our white paper “SeqOneRank+: Supporting WES/WGS based clinical diagnosis with a variant-prioritization AI engine”

You will learn about :

• SeqOneRank+: Our A.I. based (Machine Learning) approach combining molecular and clinical information to rank variants and classify them in ACMG classes.
• A retrospective analysis based on 1016 exomes from a nephrology cohort, showing better sensitivity and specificity compared to Exomyser.
• Use cases showing that SeqOneRank+ can find previously undiagnosed causal variants.
• Improvements of phenotypic information by creating clusters of of synonym phenotypes based on an association matrix (OMIM, NCBI, PubMed, Orphanet).

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SeqOne’s program

ESHG program

Learn about the full ESHG program: https://2023.eshg.org/programme-at-a-glance/