SOPHiA Cardio Solutions
SOPHiA Cardio Solutions include two ready-to-use genomic applications, Cardio (CAS) and Extended Cardio (ExtCAS), which enable accurate assessment of up to 128 genes associated with a wide range of arrythmias and cardiomyopathies.
Both applications combine a pre-designed capture-based target enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform to overcome sequencing bias and maximize performance. As a result, SOPHiA Cardio Solutions helps increase the efficiency of the research laboratory by offering an end-to-end approach (from sample to variant report) and high-quality data, leading to informed decision making.
- Ready-to-use target enriched library in just 1.5 days
- Optimized automation protocols to support high-throughput analyses
- Customizable content with up to 128 genes to meet your specific research laboratory needs
- Accurate detection and annotation of SNVs, Indels and CNVs in all genes of the panel through a single assay
- Streamlined interpretation thanks to intuitive variant filter options, machine learning-based variant classification (complementing the ACMG ranking), and access to one of the largest networks of connected healthcare institutions to gain and share knowledge on relevant variants
|Parameters||Cardio Solution||Extended Cardio Solution|
|Addressed Diseases||Arrythmias and cardiomyopathies||TArrythmias and cardiomyopathies|
|Covered Genes||31 genes with complete coding sequence||128 genes (including all the CAS genes) with completed coding sequences|
|Target region||131 kb||470 kb|
|DNA input||200 ng||200 ng|
|Library Preparation Time||1.5 days||1.5 days|
|Analysis Time from FASTQ||4 hours||4 hours|
Dedicated features to ease variant interpretation
The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and help you significantly reduce turnaround time.
• Dual Variant Pre-classification to improve assessment of variants pathogenicity based on both ACMG scores and our machine learning predictions
• Virtual Panel to restrict the interpretation to sub-panels of genes using the HPO or OMIM browser
• Cascading Filters to apply custom filtering options for quicker screening of relevant variants and save strategies for future analyses
Through SOPHiA DDM™, you can also have access to Alamut Visual Plus, a fullgenome browser that integrates numerous curated genomic and literature databases, guidelines, missense and slicing predictors, thus enabling a deeper variant exploration.