Events

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).

Fill out the form below to receive it by email.

SeqOne’s program

Sunday, June 11th, 13:00-14:00 BST

  • Poster presentation 1: Clinical evaluation of a low-coverage whole-genome test for homologous recombination deficiency detection in ovarian cancer. Speaker: Céline Gottin
  • Poster presentation 2: Towards implementing Nanopore sequencing for routine molecular diagnosis of germline cancer predisposition. Speaker: Marie Mille

Monday, June 12th, 13:00-14:00 BST

  • Poster presentation 1: LoRID: a bioinformatic pipeline to discover alternative isoforms using nanopore long-read sequencing. Speaker: Nicolas Soirat
  • Poster presentation 2: SeqOne rank+, a machine learning model to rank genetic variants based on phenotypes and ACMG standards criteria. Speaker: Jiri Ruzicka
  • Poster presentation 3: DrugOrder: an automated method for ranking variant/drug associations using large panel of cancer genes. Speaker: Michaël Blum

Monday, June 12th, 14:00-15:30 BST

Corporate satellite: Harnessing AI to improve diagnostic yield with large-scale NGS data

Location: Room Alsh 1, level 0

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

ESHG program

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

Published on 11 May 2023

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