SOPHiA DDM™ for Rare Diseases

From data to insights to confident care

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.
Delivering an accurate diagnosis for a rare disease can take up to 8 years and may require various or sometimes invasive testing1. More than 70% of rare diseases are genetic or have an underlying genetic component2, and many have an early pediatric-onset with severe clinical manifestations. Furthermore, many rare diseases may share overlapping and complicated phenotypes. Thus, proper assessment of disease-causing variants is critical to shortening the diagnostic odyssey.
Over the last decade, clinical and whole exome sequencing has emerged as reliable and cost-effective NGS (Next Generation Sequencing) solutions to diagnose and characterize rare and inherited diseases. While the exome accounts for ≈1% of the entire genome, it is responsible for at least 85% of disease-causing mutations3. However, the sequencing of an exome can result in tens of thousands of suspected variants to investigate. Clinicians and researchers need a reliable analytical platform to support variant analysis, prioritization, and reporting to turn their genetic data into valuable insights.
SOPHiA DDM™ for Rare Diseases offers a streamlined, end-to-end workflow with comprehensive coverage of the entire coding region of the genome to enable researchers to analyze and focus on the variants that matter most.

Examples of diseases covered by SOPHiA DDM™ for Rare Diseases

  • Autism spectrum disorders
  • Cardiomyopathy
  • Ciliopathies
  • 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.
A universal health data analytics platform for a decentralized approach to healthcare
SOPHiA DDM™'s patented algorithms enable the reliable detection of variants through the noise. Example of normalized coverage levels of Copy Number status for SOPHiA Clinical Exome Solution. Blue dots correspond to target regions without CNVs, red dots to deletions. Solid dots represent high-confidence CNV predictions.
Data pooling and knowledge sharing
Narrow your variant investigation down to the ones that matter most with SOPHiA DDM™.

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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Webinars

Ensuring high resolution CNV detection

Big panels, big challenges: CNV detection in Whole Exome Sequencing

Robust CNV detection using Whole Exome Sequencing

Maximizing the power of Data Driven Medicine analyzing germline variants with SOPHiA

1: Shire Rare Disease Report, 2013 2: Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). Doi: 10.1038/s41431-019-0508-0. 3: Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. (November 2009). "Genetic diagnosis by whole exome capture and massively parallel DNA sequencing". Proceedings of the National Academy of Sciences of the United States of America.106 (45): 19096–101. doi:10.1073/pnas.0910672106.
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