Twist Exome Solutions powered by SOPHiA DDM™
Accelerate the assessment of rare and inherited disease variants
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
- Customizable panel to expand or enhance content with a quick production turnaround
- 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
- Unlimited, secure and scalable cloud-based data storage
- Secure knowledge sharing with peers through the SOPHiA GENETICS’ community
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. *
*Data on file. Results may vary
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.
|Parameters||Twist Exome Solution|
|Genes covered||>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 prep time||1.5 Days|
|Analysis time from FASTQ||Overnight|
Whole exome sequencing (WES) is increasingly used to detect rare and common genetic variants in humans. However, larger data sets generated by WES further compound the challenges of CNV detection due to additional noise and biases introduced. For accurate detection of CNVs, a robust and sensitive solution is required. Watch now to see how SOPHiA GENETICS and Twist Bioscience’ partnership accomplishes this.
SOPHiA Whole Exome Solution
Our sample-to-report solution supports researchers in accelerating assessment of variants associated with rare and inherited diseases.
SOPHiA Clinical Exome Solution
Facilitate the assessment of challenging cases of Mendelian diseases with our end-to-end workflow that reduces costs and allows faster completion of studies.
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.