SOPHiA Whole Exome Solution

From data to insights to confident care

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

The solution combines an expertly designed capture-based target enrichment kit with the analysis and interpretation functions of the SOPHiA DDM™ platform, offering uniform coverage of the target region and 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.

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Highlights

  • Expertly designed panel with 19,396 genes that provides uniform coverage across the various GC-rich contents for confident variant detection, including CNV detection in 93.3% of genes
  • 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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Specifications

Parameters Details
Gene Panel 19,396
Target Regions 39 Mb
Sample Source Blood
DNA Input 200 ng
Sequencer Compatibility Illumina NovaSeq® 6000, NextSeq® 500/550, HiSeq® 2500
Library Prep Time 8 hours
Analysis time from FASTQ file Overnight
Detected Variants SNVs
Indels
CNVs

The coverage you need for accurate CNV detection

SOPHiA Whole Exome Solution 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 to the precise identification of multiple types of variations, including copy number variations (CNVs). With SOPHiA Whole Exome Solution, you can reach more than 90% analytical sensitivity* for CNV detection.

Data pooling and knowledge sharing

*90% Sensitivity in two consecutive regions (exons) can be achieved with a recommended sequencing of 80 million reads (40 million fragments).

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

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 deeper variant exploration.

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Webinars

Robust CNV detection using whole exome sequencing for complex cases

Big panels, big challenges: CNV detection in WES

While Whole-Exome Sequencing has shown promise in becoming a first-tier tool for understanding rare genetic disorders, the identification of copy-number variations (CNVs) from large NGS datasets is still challenging. During this short webinar, one of our Data Science Experts will walk you through the challenges of NGS-based CNV detection, including inferring events from read coverage, and present how to manage the different sources of noise.
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Read More

$

A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.

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