ESHG 2022

SOPHiA GENETICS is excited to be a part of the European Society of Human Genetics 2022 annual meeting, held in person and virtually in Vienna, Austria from June 11-14. 

You will have the chance to chat with our experts at booth #280 and schedule a demo of the universal SOPHiA DDM™ Platform.

We are also happy to invite you to our symposium taking place on Sunday, June 12, from 08.30am to 10.00am CEST at level -2 in rooms -2.32 & -2.33. See here below for the details:

Integrating nuclear and mitochondrial DNA analysis to expand research into rare diseases 

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. 

Join us for this exciting symposium 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. 

Using tailored analytics to solve challenging pediatric cases 
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 
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?
Elena Tenedini, Specialist in Medical Genetics at Clinical Genomics Laboratory, Modena Polyclinic University Hospital

Optimizing mtDNA analysis utilizing exome sequencing 
Dr. Slawomir Kubik, Manager, Genomic Research, Data Science, SOPHiA GENETICS

Event Date

June 11, 2022 – June 14, 2022

Event Type

In-person

Event Location

Europe

Areas of Interest

Exomes, Genomics, Hereditary Disorders

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