Twist Exome Solutions powered by SOPHiA DDM™
From data to insights to confident care
The Twist Exome Solutions powered by SOPHiA DDM™ are NGS-based applications that bundle the Twist Human Comprehensive or Human Core Exome enrichment kit with the SOPHiA DDM™ platform to accelerate the assessment of variants associated with rare and inherited disease.
The combined end-to-end workflow (from sample to report) helps you reduce sequencing costs by increasing sample throughput and achieve a very high depth of coverage across target regions. Both solutions shorten turnaround time by enabling the detection of multiple types of variants (i.e., SNVs, Indels, and CNVs) in one unique experiment and catalyzing your interpreting efforts with the intuitive filter options of SOPHiA DDM™.
Efficient panel design to optimally cover more than 99% of protein- coding genes
Confident detection of multiple types of variants, including CNVs with exon-level resolution
Integrated features to facilitate variant filtration and interpretation
Access to the most updated and trusted databases, such as OMIM® and HPO
Secure and scalable cloud-based data storage
Secure knowledge sharing with peers through the SOPHiA GENETICS community
Product Details
Increase confidence in your variant detection
The SOPHiA DDM™ platform enables robust detection and investigation of multiple types of variants, such as SNVs, Indels, and CNVs, in one unique experiment. Our patented algorithms generate reliable results, ensuring >90% analytical sensitivity. *
Dedicated features to ease variant interpretation
Dedicated features in SOPHiA DDM™ reduce the complexity associated with determining the significance of genomic variants and facilitate the interpretation process for streamlined turnaround times:
- 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 interpretation to genes of interest using the HPO or OMIM® browser
- Cascading Filters – Apply custom filtering options to pinpoint relevant variants and save strategies for future analyses
- Familial Variant Analysis (trio-analysis) – Identify disease-associated 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.
Specifications
| Parameters | Twist Exome Solution |
|---|---|
| Genes | >21,000 genes || >21,000 + RefSeq genes |
| Target Region Size | >33 Mb || 36.8 Mb |
| Sample Type | Blood and Saliva |
| DNA Input Amount | 50-200 ng |
| Sequencer Compatibility | Illumina NextSeq® and NovaSeq® |
| Library Preperation Time | 1.5 Days |
| Analysis Time From FASTQ | Overnight |
| Detected Variants |
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* Data on file. Results may vary