Clinical Exome Solution (CES v3)

The NGS Clinical Exome Solution (CES v3) of SOPHiA GENETICS covers the coding regions (± 5 bp of intronic regions) of 4,728 genes, the entire mitochondrial genome and ~200 non-coding variants with known pathogenicity in deep introns/enhancer/promoter genes. This new and improved probe design of the v3 provides increased capacity for detection of rare and inherited disorders.

• Accurate analysis of multiple type of variants (SNVs, Indels and CNVs).
• High on-target reads percentage and coverage uniformity even in GC-rich regions.

With the clinical exome study for clinical diagnosis, mutations in genes not related to the clinical phenotype of the patient but with clinical relevance can be detected. Exome sequencing thus helps early detection and early treatment of this genetic diseases.

CES v3 offers a streamlined end-to-end workflow (from sample to variant report), making it faster and easier to assessment of challenging Mendelian disorders, freeing up time and resources.

This NGS solution includes a capture-based target enrichment kit, as well as the functionality and analytical capabilities of the SOPHiA DDM™ platform for data interpretation.

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and help you greatly reduce turnaround time.

• GRCh38/hg38-based analytics for accurate variant annotation.
• Dual Variant Pre-classification to improve assessment of variants pathogenicity based on both ACMG scores and our machine learning-based predictions
• Virtual Panel 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 to shorten the candidate variant list accordingly

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.

In addition to the Clinical Exome kit, we have other more specific panels for clinical diagnosis in areas such as metabolism, oncology, genetics or cardiology.