SOPHiA Whole Exome Solution v2

From data to insights to confident care

SOPHiA 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 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 just 1.5 days

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

Unlimited, secure and scalable cloud-based data storage with secure knowledge sharing

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Product Details

The coverage you need for accurate CNV detection

SOPHiA 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 Whole Exome Solution v2, you can reach more than 97% analytical sensitivity* for CNV detection.

PlotWES Sensitivity vs region

*97% Sensitivity in two consecutive regions (exons) can be achieved with a recommended sequencing of 80 million reads (40 million fragments).

OMIM Shower

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 SOPHiA GENETICS 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 (trio analysis) to quickly identify causative variants by selecting different inheritance modes with a single mouse click

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.

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Specifications

Parameters Details
Genes 19,425
Target Region Size 39 Mb
Sample Type Blood
DNA Input Amount 200 ng
Sequencer Compatibility
  • Illumina NovaSeq® 6000
  • NextSeq® 500/550
  • HiSeq® 2500
Library Preparation Time 8 hours
Analysis Time From FASTQ File Overnight
Detected Variants
  • SNVs
  • Indels
  • CNVs
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