SOPHiA DDM™ Clinical Exome Solution v3

From data to insights to confident care

With new and improved probe design, rare and inherited disorder analyses benefit from increased detection capabilities within the entire mitochondrial genome, as well as non-coding variants known to be disorder-associated, for a deeper investigation of Mendelian disorders.

SOPHiA DDM™ Clinical Exome Solution v3 offers a streamlined end-to-end workflow (from sample to variant report), that streamlines and facilitates the assessment of challenging Mendelian disorders, freeing up time and resources. The solution bundles a capture-based target enrichment kit with the analytical capabilities and interpretation-support functionalities of SOPHiA DDM™ platform, offering deep coverage of the target regions and accurate analysis of multiple type of variants (SNVs, Indels and CNVs) in one unique experiment. As a result, we help you efficiently find the pathogenic needle in the big data haystack, and improving turnaround time.

Accurate variant calling including CNV detection and annotation powered by GRCh38/hg38 based analytics

Streamlined variant interpretation thanks to the SOPHiA DDM™ platform-integrated prioritization and filtering features, including trio analyses to analyze variants by inheritance mode, and access to updated and trusted databases, such as OMIM® and HPO

Ready-to-sequence target enriched library in 8 hours hands-on time

Expertly designed panel with 5,500 genes, including the entire mitochondrial genome and ~ 200 non-coding variants with known pathogenicity in deep introns/enhancer/promoter genes

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Product Details

Dedicated features to ease variant interpretation

Dedicated features in SOPHiA DDM™ reduce the complexity of determining the significance of genomic variants and facilitate the interpretation process, thus reducing turnaround time: 

  • GRCh38/hg38 based analytics – Annotate variants accurately

  • Dual Variant Pre-classification – Improve assessment of variant pathogenicity with both ACMG scores and SOPHiA GENETICS machine learning-based predictions
  • Virtual Panels – Restrict the interpretation to sub-panels of genes of interest using the HPO or OMIM® browser
  • Cascading Filters – Apply custom filtering options for quicker screening of relevant variants and save strategies for future analyses
  • Familial Variant Analysis (trio-analysis) – Identify pathogenic variants considering different modes of inheritance, through a family-based approach

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.

Data pooling and knowledge sharing

Full coverage of the mitochondrial genome coupled with sensitive variant calling

The probe design is highly optimized to guarantee high on-target reads percentage and coverage uniformity even in GC-rich regions, including the first exon. With SOPHiA DDM™ Clinical Exome Solution v3, you get full mitochondrial genome variant detection, including non-coding variants. Additionally, with improved analytical performance, you can reach 98% analytical sensitivity for CNV detection*.

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Specifications

Attribute Content
Addressed Diseases Rare and inherited disorders
Genes 5,500
Entire mitochondrial genome
~ 200 non-coding variants with known pathogenicity in deep introns/enhancer/promoter genes
Target Region Size 16 Mb
Sample Type Blood
DNA Input Amount 200 ng
Sequencer Compatibility
  • Illumina NovaSeq® 6000
  • Illumina NextSeq® 500/550
  • Illumina MiSeq®
  • MGI DNBSEQ-G400
Library Preparation Time 8 hours hands-on time
Analysis Time From FASTQ File 6 hours
Detected Variants
  • SNVs
  • Indels
  • CNVs

 

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Contact us

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Footnotes

(*Data on file. Analytical performance for CNVs was calculated on 80 CNVs, sequenced on an Illumina NextSeq® instrument.)

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