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About
Over the past decade, next-generation sequencing (NGS) has emerged as a comprehensive and cost-effective tool for the diagnosis and research of rare diseases. It is well known that mutations in nuclear DNA can cause a range of human diseases, with rare diseases affecting 5% of the world’s population. A fact that is less well known, is that mutations in the mitochondrial genome (comprised of a mere 37 genes) can cause mitochondrial diseases that affect 1 in 5000 people.

This exciting symposium, which took place at ESHG 2022 Conference on Sunday, June 12, offers you the possibility to discover how the SOPHiA DDM™ Platform combined with Alamut™ Visual Plus has enabled the identification of novel disease-causing variants through real-life examples. You will learn how the SOPHiA DDM™ Platform efficiently supports both targeted and exome-size applications, with simplified workflows and optimized analytics for both nuclear and mitochondrial DNA, to generate accurate results and solve challenging research questions.

Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at support@sophiagenetics.com to obtain the appropriate product information for your country of residence.
Price
Free
Language
English
Who can attend
Everyone
Dial-in available? (listen only)
Not available.
Agenda
  • Using tailored analytics to solve challenging pediatric cases - Dr. Alessandra Terracciano, Biologist at Medical Genetics Laboratory, Bambino Gesù Children’s Hospital
  • Molecular diagnosis of inherited cardiac diseases based on a semi-automated NGS workflow - Dr. Alexandre Janin, Senior Lecturer & Hospital Practitioner at Cardiogenetics Laboratory, Arrhythmias and Cardiomyopathies, CHU Lyon
  • Low-frequency allele variants in NGS multigene hereditary cancer testing: artifacts, ChIP or mosaics? - Dr. Elena Tenedini, Specialist in Medical Genetics at Clinical Genomics Laboratory, Modena Polyclinic University Hospital
  • Optimizing mtDNA analysis utilizing exome sequencing - Mr. Slawomir Kubik, Manager, Genomic Research, Data Science, SOPHiA GENETICS

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