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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, that 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: SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
Who can attend
Dial-in available? (listen only)
Not available.
  • 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