SOPHiA Clinical Exome Solution v2
From data to insights to confident care
SOPHiA Clinical Exome Solution v2 offers a streamlined end-to-end workflow (from sample to variant report), that dramatically facilitates the assessment of challenging Mendelian disease cases, freeing up time and resources.
The solution bundles a capture-based target enrichment kit with the analysis and interpretation functions of the 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 insights in complex data, thus dramatically reducing turnaround time.
- Ready-to-sequence target enriched library in just 1.5 days
- Customizable panel covering 4,490 genes related to rare and inherited diseases
- CNV detection for 98.1% of genes, even for areas with high GC-rich content
- Accurate variant annotation, based on UCSC-built hg38 human genome and comprehensive transcript annotation with MANE
- Streamlined variant interpretation thanks to the SOPHiA DDM™ platform-integrated filtering features, including trio analyses to analyze variants by inheritance mode, and access to updated and trusted databases, such as OMIM and HPO
|Target Regions||12 Mb|
|DNA Input||200 ng|
|Sequencer Compatibility||Illumina NovaSeq® 6000, MiSeq®, NextSeq® 500/550, HiSeq® 2500, 3000/4000|
|Library Prep Time||1.5 days|
|Analysis time from FASTQ file||Overnight|
|Detected Variants||SNVs Indels CNVs|
The coverage you need for accurate CNV detectionSOPHiA Clinical Exome Solution v2 achieves high on-target rates for reliable coverage uniformity values across all target regions, even GC-rich ones. Equal read coverage is crucial to the precise identification of multiple types of variations, including CNVs. With SOPHiA Clinical Exome Solution v2, you can reach more than 90% analytical sensitivity for CNV detection*.
Coverage uniformity profile of a typical sample analyzed with SOPHiA Clinical Exome Solution. The X-axis represents the chromosomic positions targeted by each solution and the Y-axis the log2 coverage normalized by the median. The closer the dots are to the 0 line, the more homogenous the reads are covering each target.
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 to quickly identify causative variants by selecting different inheritance modes with a single mouse
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.
Automated workflow to boost laboratory efficiency
SOPHiA Clinical Exome Solution v2 can be coupled with leading liquid handling robots for a fully automated library preparation. Discover how a Greek genetic research and diagnostics center chose to couple the Hamilton STARlet robot with the SOPHiA Clinical Exome Solution v2 for an increasing workload while ensuring high-quality results.
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Secondary findings in 622 Turkish clinical exome sequencing data
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders
SOPHiA Whole Exome Solution
Our sample-to-report solution supports researchers in accelerating assessment of variants associated with rare and inherited diseases.