SOPHiA Cardio Solutions

Getting to the heart of inherited cardiac diseases
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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.
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  • 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
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Parameters Cardio Solution Extended Cardio Solution
Addressed Diseases Arrythmias and cardiomyopathies Arrythmias 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
Sample source Blood Blood
DNA input 200 ng 200 ng
Sequencer Compatibility
  • Illumina: MiniSeq™ MiSeq, NextSeq® 500/550
  • Thermo Fisher Scientific: Ion S5™
  • Illumina: MiniSeq™ MiSeq, NextSeq® 500/550
  • Thermo Fisher Scientific: Ion S5™
Library Preparation Time 1.5 days 1.5 days
Analysis Time from FASTQ 4 hours 4 hours
Variants Called SNVs

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 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

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.

Data pooling and knowledge sharing
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Explore Solutions

Extended Cardio (ExtCAS) Solution

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