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.

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.

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