SOPHiA DDM™ for Rare Diseases
A universal analytical platform for multiple exome library preparations/capture solutions
SOPHiA DDM™ for Rare Diseases provides optimal coverage and accurate analyses of the human exome (clinical and whole) to streamline the investigation of complex and rare Mendelian diseases. Our analytics are compatible with and tailored to several exome panels and sequencers and can quickly adapt to your laboratory’s needs. Moreover, our research and development teams are constantly adding new functionalities of the SOPHiA DDM™ platform to maximize user experience.
Examples of diseases covered by SOPHiA DDM™ for Rare Diseases
- Autism spectrum disorders
- Congenital disorders of glycosylation
- Congenital mysathenic syndromes
- Epilepsy and seizures
- Eye disorders
- Gylcogen storage disorders
- Hearing loss
- Hereditary cancer syndrome
- Hereditary periodic fever syndromes
- Inflammatory bowel disease
- Lysosomal storage disorders
- Maturity onset diabetes of the young
- Multiple epiphyseal dysplasia
- Neuormuscular disorders
- Noonan syndrome and related disorders
- Peroxisome biogensis, Zellweger syndrome spectrum
- Short stature panel
- Skeletal dysplasia
- X-linked intellectual disability
Efficiently assess CNVs with exon-level resolution
While targeted enrichment method and kit designs may differ, sequencing errors and biases are common no matter the combination of technologies used for exome analyses. The SOPHiA DDM™ platform overcomes potential biases to produce high-quality, noise-filtered output, necessary to detect copy number variations (CNVs) accurately. In fact, the platform delivers sensitive detection of hard-to-detect CNVs with exon-level resolution, together with SNVs and Indels in a single experiment.
Reduce turnaround time with dedicated variant filtering and prioritization features
The SOPHiA DDM™ platform features intuitive, customizable filtering and prioritization options to manage large data sets and narrow searches to the most relevant variants. Features include:
- Dual Variant Pre-Classification, to categorize variants through algorithm-based pathogenicity classes and the ACMG’s scores;
- Virtual Panel and Cascading Filters to focus your investigation using multiple parameters (such as variant fraction, coding consequences, etc.) and trusted databases, including OMIM (Online Mendelian Inheritance in Man) and HPO (Human Phenotype Ontology) in addition to the complimentary variant exploration software, Alamut;
- Familial Variant Analysis to perform efficient trio-analyses.
With the SOPHiA DDM™ platform, experts from hundreds of healthcare institutions can flag the pathogenicity level of germline variants in accordance with their knowledge. This highly valuable anonymized information feeds the variant knowledge base and is securely shared among the members of the community to better profile variants of unknown significance.
Would you like to know more about our solutions for Rare Diseases, or do you have other questions?
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