SOPHiA Cardio Solutions
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 both ACMG scores and 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.
|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|
|DNA Input||200 ng||200 ng|
|Library Preparation Time||1.5 days||1.5 days|
|Analysis Time From FASTQ File||4 hours||4 hours|
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SOPHiA DDM™ for Oncology
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SOPHiA DDM™ for Rare and Inherited Disorders
Quickly and accurately analyze the massive amount of data coming from your NGS-based applications (from multiple exome solutions) to identify variants associated with rare and inherited disorders.