SOPHiA DDM™ Cardio Solutions
SOPHiA DDM™ 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 DDM™ 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.
Streamlined interpretation thanks to intuitive variant filter options, machine learning-based variant classification, and access to one of the largest networks of connected healthcare institutions to gain and share knowledge on relevant variants
Product Details
Dedicated features to ease variant interpretation
The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline interpretation and help reduce turnaround time.
- Dual Variant Pre-Classification to improve assessment of variants’ pathogenicity based on our machine learning-based predictions
- Virtual Panels 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
- Familial Variant Analysis (trio analysis) to quickly identify causative variants by selecting different inheritance modes with a single mouse click
Through SOPHiA DDM™, you can also have access to Alamut™ Visual Plus, a full-genome browser that integrates numerous curated genomic and literature databases, guidelines, missense and slicing predictors, thus enabling a deeper variant exploration.
Specifications
| Parameters | Cardio Solution | Extended Cardio Solution |
|---|---|---|
| Addressed Diseases | Arrythmias and cardiomyopathies | Arrythmias and cardiomyopathies |
| Genes | 31 genes with complete coding sequence | 128 genes (including all the CAS genes) with completed coding sequences |
| Target Region Size | 131 kb | 470 kb |
| Sample Type | Blood | Blood |
| DNA Input | 200 ng | 200 ng |
| Sequencer Compatibility |
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| Library Preparation Time | 1.5 days | 1.5 days |
| Analysis Time From FASTQ File | 4 hours | 4 hours |
| Detected Variants |
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