SOPHiA Clinical Exome Solution v2
From data to insights to confident care
The coverage you need for accurate CNV detection
SOPHiA Clinical Exome Solution v2 achieves high on-target rates for reliable coverage uniformity values across all target regions, even GC-rich ones. Equal read coverage is crucial to the precise identification of multiple types of variations, including CNVs. With SOPHiA Clinical Exome Solution v2, you can reach more than 90% analytical sensitivity for CNV detection*.
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 to quickly identify causative variants by selecting different inheritance modes with a single mouse
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.
|Target Region Size||12 Mb|
|DNA Input Amount||200 ng|
|Library Preparation Time||1.5 days|
|Analysis Time From FASTQ File||Overnight|
- Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
- Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
- Secondary findings in 622 Turkish clinical exome sequencing data
- Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders
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*Data on file. Results may vary. Sensitivity of CNV detection in two consecutive regions (exons) with 40 million fragments (80 million reads) based on internal data.