SOPHiA DDM™ Extended Cardio Solution
SOPHiA DDM™ Extended Cardio Solution (ExtCAS) enables assessment of 128 genes associated with a wide range of arrythmias and cardiomyopathies.
This application combines 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™ ExtCAS 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.
Customizable content with 128 genes to meet your specific research laboratory needs
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™ Platform, 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 |
SOPHiA DDM™ Extended Cardio Solution |
|---|---|
| Addressed Diseases | Arrythmias and cardiomyopathies |
| Genes | 128 genes with completed coding sequences |
| Target Region Size | 470 kb |
| Sample Type | Blood |
| DNA Input | 200 ng |
| Sequencer Compatibility |
|
| Library Preparation Time | 1.5 days |
| Analysis Time From FASTQ File | 4 hours |
| Detected Variants |
|
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