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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 11th-14th.
You will have the chance to chat with our experts at our booth #280 and schedule a demo of the universal SOPHiA DDM™ platform. See between for our agenda
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 Laboratorio di Genetica Medica, Ospedale Pediatrico del Bambino Gesù
Molecular diagnosis of inherited cardiac diseases based on a semi-automated NGS workflow
Alexandre Janin, Maître de conférence, Praticien hospitalier, Laboratoire Cardiogénétique - Troubles du rythme et cardiomyopathies, CHU de Lyon
Optimizing mtDNA analysis utilizing exome sequencing
Dr. Slawomir Kubik, Manager, Genomic Research, Data Science, SOPHiA GENETICS
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. 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 [email protected] to obtain the appropriate product information for your country of residence.
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