SOPHiA DDM - Cloud-Based Software Platform for Cardiology
Cardiac diseases are the #1 cause of death globally1,2. Genetic testing is frequently considered a key component of the clinical management process of inherited cardiac disorders, such as hypertrophic, dilated, and arrhythmogenic cardiomyopathies, aortopathies, and inherited arrhythmia syndromes3. This approach is typically reserved for patients with a confirmed or suspected diagnosis of an inherited cardiac disease or individuals at high risk due to a previously identified pathogenic variant in their family.
NGS-based assays have the potential to identify disease-causing variants by simultaneously analyzing multiple genes, improving prognosis, and guiding the choice of the appropriate care options.
Despite the benefits of short turnaround time and cost-effectiveness of NGS tests, the main challenge relies on accurately and efficiently analyzing the large number of variants detected. Besides pathogenic variants, multiple variants, including variants of uncertain significance (VUS), can be detected, thus complicating the clinical decision-making process.
SOPHiA GENETICS solutions enable clinical researchers to quickly and confidently identify disease-causing genomic variants, facilitating the early discovery of multiple types of arrhythmias and cardiomyopathies. We offer a robust, scalable, end-to-end workflow (from sample to insights) to match your specific research laboratory needs. The adoption of the intuitive SOPHiA DDM™ analytical platform, which facilitates knowledge sharing among users, and pre-designed NGS-based applications helps laboratories streamline the variant interpretation process, reducing turnaround time and improving outcomes.
Most common diseases covered by SOPHiA DDM™ for Cardiology?
- Catecholaminergic polymorphic ventricular tachycardia (CPVT)
- Long / Short QT syndromes
- Brugada syndrome (BRS)Arrhythmia
- Hypertrophic cardiomyopathy (HCM)
- Dilated cardiomyopathy (DCM)
- Restrictive cardiomyopathy (RCM)
- Left ventricular non-compaction (LVNC)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Streamlined workflow to accelerate variant analysis
In one experiment, the SOPHiA DDM™ for inherited cardiac diseases offers:
- Uniform coverage of the most relevant genes linked to cardiac disorders
- Accurate detection and annotation of single-nucleotide variants (SNVs), small insertion or deletion events (Indels), and copy number variations (CNVs)
- Simplified variant interpretation process with intuitive variant filter options (e.g., Virtual Panel and Cascading Filters), machine learning-based variant classification (complementing the ACMG ranking), and the possibility to gain and share knowledge on relevant variants with peers through global and local user networks.