Comment aider le biologiste moléculaire à diagnostiquer les maladies génétiques grâce à l’intelligence artificielle? – Lunch Atelier aux Assises de Génétique

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Nous sommes ravis d’annoncer que SeqOne Genomics sera présent aux 12èmes Assises de Génétique Humaine et Médicale et animera un Atelier-Déjeuner le Mardi 9 Janvier 2024 de 12h45 à 13h45.

L’essor du séquençage dans le diagnostic des maladies génétiques a conduit à une augmentation des prescriptions pour l’analyse d’exomes et de génomes, mettant les généticiens face à une charge de travail croissante.

Les Pr. Laurent Mesnard, Dr. Kevin Yauy et Dr. Marine Dancer partageront comment l’utilisation de l’intelligence artificielle se révèle précieuse en triant et réduisant le nombre de variants à analyser, en tenant compte des phénotypes des patients à partir de comptes-rendus de consultations, ce qui améliore l’efficacité du diagnostic moléculaire et simplifie le processus dans la routine clinique.

Inscrivez-vous à notre atelier-déjeuner en remplissant le formulaire suivant. Vous recevrez une confirmation de réservation par email.

Le jour J, soit le Mardi 9 Janvier matin, passez à notre stand (n°22) pour récupérer votre bon de commande ou présentez-vous directement devant la salle Maillot à partir de 12h30.

Réservez votre place pour l’Atelier-Déjeuner :

SeqOne Genomics appoints Martin Dubuc, Senior Pharmaceutical and Digital Health Executive to its Board of Directors

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Welcome Martin Dubuc to the SeqOne Genomics board

M. Dubuc will strengthen the Board’s capabilities in the fields of personalized medicine and companion diagnostics

Montpellier, France – Thursday, 26th of October, 2024 – SeqOne Genomics, a French company specialized in artificial intelligence-enhanced genomic analysis solutions, is pleased to announce the appointment of Martin Dubuc to its board of directors.

SeqOne Genomics is at the forefront of genomic data analysis in clinical applications, pioneering innovative software solutions that leverage artificial intelligence enabling more precise and personalized medicine.

Mr. Martin Dubuc, is a seasoned senior executive with Global experience who most recently headed up Biogen’s Global Digital Health division driving personalized and digital medicine. He brings over two decades of experience in the pharmaceutical industry at Pfizer, Merck&Co and Biogen across France, Europe and US combined with thought leadership expertise in digital health.

Sacha Loiseau, Ph.D., chairperson of SeqOne Genomics’ Board, stated: “I am thrilled to welcome Martin Dubuc to SeqOne’s Board. His deep insights into the pharmaceutical industry, combined with his knowledge of digital health technologies, will be
instrumental in taking SeqOne Genomics to the next level and providing the most advanced genomic analysis solutions for the pharmaceutical industry.”

“I was immediately seduced by the combination of people, hard science and technical
expertise underlying SeqOne’s genomic analysis platform, coupled with their focus on developing in-vitro diagnostics and companion diagnostics making personalized medicine a reality for patients and bringing innovative capabilities as a strategic
partner to LifeScience companies across the lifecycle.” commented Mr. Dubuc, “The exponential and converging progress of technologies underlying genomic testing opens a new era of opportunities. SeqOne is well positioned to make a meaningful
difference for patients partnering with LifeScience companies catalyzing precision medicine therapy development, genetic disease diagnosis, personalized medicine, and companion diagnostics”.

Dr. Nicolas Philippe, CEO and co-founder of SeqOne Genomics, concluded: “Martin Dubuc is a very strong addition to our Board of Directors. Martin’s shrewd business acumen and knowledge of the pharmaceutical industry have already proven to add significant value and will continue to help us as we strengthen our pharma offering and expand internationally.”

About SeqOne Genomics:
SeqOne Genomics offers high-performance genomic analysis solutions for healthcare
providers, treating patients suffering from cancer, rare and hereditary diseases as well
as pharmaceutical companies developing new therapies. The solution supports both
short read and long-read nanopore sequencing and leverages advanced machine
learning coupled with the company’s proprietary genomics platform to dramatically
reduce turnaround times and costs while delivering comprehensive and actionable
insights for personalized medicine. The company has won numerous awards including
the iLab award and the ARC cancer foundation’s Hélène Stark prize and has twice been
nominated for the prestigious Prix Galien award. Investors include Elaia, IRDI Capital
Investissement, Merieux Equity Partners, Omnes and Software Club.

Web: https://seqone.com

Contact:
Jean-Marc HOLDER
media@seqone.com
+33 (0) 9 54 40 42 84

Seamlessly transition from Agilent Alissa Interpret genomic data analysis software to SeqOne Platform

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Seamless transition from Agilent Alissa Interpret to SeqOne Platform

Discover SeqOne, the ultimate interpretation solution and Alissa Interpret alternative, compatible with Agilent wetlab!

Talk to our experts

Agilent’s genomic data interpretation software, Alissa Interpret, is slated for discontinuation in the future.

We know change can be unsettling, but at SeqOne, we’re here to make sure your transition is effortless. We’ve developed a plan that minimizes disruption to your genomic testing operations , by transitioning your genomic analysis to the proven, high performance SeqOne genomic analysis platform.

Why SeqOne is the right alternative to replace Alissa Interpret:

  • Ease of Deployment: Our user-friendly interface is designed for quick adaptation, saving you time and effort.
  • Data Compatibility: Seamlessly transfer your data from Alissa to SeqOne platform and keep performing your analysis. Your Alissa Interpret annotations data will seamlessly integrate with SeqOne, preserving your valuable work.
  • Comprehensive Variant Identification: SeqOne’s advanced algorithms ensure no critical mutations are overlooked.
  • Rapid Prioritization: Streamline your analysis with our software, providing tools to swiftly identify the most relevant mutations for each patient.
  • Certified Solution: SeqOne is a certified CE-IVD platform, but also HDS, ISO 27001 & ISO 13485, ensuring the highest standards of quality.

Your personalised Migration Plan

You have developed an efficient process for your lab and don’t want to start again from scratch. SeqOne has your back with a migration plan that minimises disruption and allows you to maintain your current laboratory workflow. Our migration plan includes:

Don’t wait – make the leap to SeqOne today for a future of uninterrupted, advanced genomic analysis. Learn more now about our NGS data analysis solution and AI-powered platform for quick variant prioritization and reporting.

Request your free demo

Genomic data interpretation workshop & lunch seminar in Graz

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Discover how efficient annotation and pathogenicity classification of rare disease and cancer variants get you to a fast diagnostic result Graz Workshop

We will be hosting a workshop & lunch seminar about genomic data interpretation.

DATE: November 8th 2023 starting at 10:00, with lunch at 12:00

LOCATION: LKH-Univ. Klinikum Graz. Auenbruggerplatz 19. Seminarraum 224/2. Stock. 8036 Graz

Discover how efficient annotation and pathogenicity classification of rare disease and cancer variants get you to a fast diagnostic result!

  • Learn how to easily solve complex disease cases with a software data interpretation solution
  • Get an overview about the IVDR regulation’s impacts on the genomic data analysis
  • Bring your laptop and experience yourself the variant prioritization process on real genomic data with the SeqOne Platform

Fill out the form to register :

1ers Ateliers Nationaux de prescription et de rendu des tests génétiques en néphrologie adulte : une approche par la pratique

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Participez à la 1ère journée « Ateliers Nationaux de prescription et de rendu des tests génétiques en néphrologie adulte : une approche par la pratique » en néphrologie adulte, organisée par Pr Laurent Mesnard le vendredi 15 septembre 2023.

L’objectif de cette journée est de proposer aux néphrologues adultes une vision globale de la prescription et du rendu des tests en fonction de leur propre écosystème clinique et de leurs besoins opérationnels. Compte tenu de l’importance des tests larges panels/exome/génome en néphrologie adulte, l’accent sera mis sur ces tests.

Cliquez sur le bouton ci-dessous pour vous inscrire en présentiel ou en ligne :

Inscription

SeqOne at ESHG 2023: A.I. for Diagnostics

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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/

SeqOne Platform is an in vitro diagnostic medical device, CE-IVD certified, designed to perform bioinformatics analysis of raw high-throughput sequencing data to help diagnosis. Manufacturer: SeqOne Genomics (France). Please read the instructions provided in the user manual carefully. Modified October 4th, 2023.