SOPHiA DDM™ Whole Exome Solution v2

From data to insights to confident care

SOPHiA DDM™ Whole Exome Solution v2 is an NGS-based application that provides a streamlined end-to-end workflow, from sample to variant report, to accelerate rare and inherited disease research.

SOPHiA DDM™ Whole Exome Solution v2 targets nuclear genes and the full mitochondrial genome to offer a single expertly designed capture-based target enrichment kit. This updated gene content is combined with the analysis and interpretation capabilities of the SOPHiA DDM™ platform, offering uniform coverage of the targeted regions within a streamlined workflow. Our cloud-based platform helps you greatly increase the efficiency of your laboratory by reducing the burden of data interpretation and storage, thus optimizing time and resources.

Expertly designed panel with 19,425 genes optimized to provide uniform coverage across GC-rich regions for confident variant detection, including CNV detection in 97% of genes

Full mitochondrial genome coverage, including heteroplasmy analysis, for increased sensitivity and precision for complex, heterogeneous variants

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

Accurate variant annotation based on UCSC-built hg38 human genome and comprehensive transcript annotation with MANE

Streamlined variant interpretation with the SOPHiA DDM™ platform’s integrated features, including trio analyses to analyze variants by inheritance mode and access to the most updated and trusted databases, such as OMIM® and HPO

Secure and scalable cloud-based data storage with secure knowledge sharing

pink dots icon

Product Details

The coverage you need for accurate CNV detection

SOPHiA DDM™ Whole Exome Solution v2 achieves high on-target rates that ensure reliable coverage uniformity values across all the target regions, even in GC-rich regions. Equal read coverage is crucial for the precise identification of multiple types of variations, including copy number variations (CNVs). With SOPHiA DDM™ Whole Exome Solution v2, you can reach more than 99% analytical sensitivity* for CNV detection.

PlotWES Sensitivity vs region

*Analytical performance for CNVs was calculated with 80M reads per sample. Sequencing was performed using an Illumina NovaSeq® instrument.

OMIM Shower

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 access 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.

workflow mobile image
pink dots icon


Parameters Details
Genes 19,425
Sample Type Blood
DNA Input Amount 200 ng
Sequencer Compatibility
  • Illumina NovaSeq® 6000
  • Illumina NextSeq® 500/550
Library Preparation Time 8 hours Hands-on time
Analysis Time From FASTQ File Overnight
Detected Variants
  • SNVs
  • Indels
  • CNVs
pink dots icon

Contact us

Please fill out the form below to get in touch

pink dots icon

Related products

SOPHiA DDM™️ Clinical Exome Solution v3

Facilitate the assessment of challenging cases of Mendelian diseases with our end-to-end workflow that reduces costs and allows faster completion of studies.

whole exome solution

SOPHiA DDM™ for KAPA HyperExome

With a fully integrated workflow from FASTQ to report, our solution streamlines multiple types of variants detection, interpretation, and reporting.

kapa hyperexome