SOPHiA DDM™ for Rare and Inherited Diseases

From data to insights to confident care
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Delivering an accurate diagnosis for a rare disease can take up to 8 years and may require various or sometimes invasive testing.1

Over the past decade, clinical and whole exome sequencing has emerged as a reliable and cost-effective next-generation sequencing (NGS) solution to diagnose and characterize rare and inherited diseases. 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 and Inherited Diseases offers a streamlined, end-to-end workflow (from sample to variant report), that provides optimal coverage and accurate analyses of the human exome (clinical and whole). Our analytics are compatible with and tailored to several exome panels and sequencers to quickly adapt to your laboratory’s needs. Moreover, our research and development teams are constantly adding new functionalities on the SOPHiA DDM™ platform to maximize user experience and facilitate the identification of causative variants with a short turnaround time.

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      Examples of covered rare and inherited 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
      • Neuromuscular disorders
      • Noonan syndrome and related disorders
      • Peroxisome biogenesis, Zellweger syndrome spectrum
      • Short stature panel
      • Skeletal dysplasia
      • X-linked intellectual disability

      Efficiently assess CNVs with exon-level resolution

      While targeted enrichment methods 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. As a result, the platform delivers sensitive detection of hard-to-detect CNVs with exon-level resolution, together with SNVs and Indels in a single experiment.

      Example of normalized coverage levels of Copy Number status for SOPHiA Clinical Exome Solution on the SOPHiA DDM™ platform. Blue dots correspond to target regions without CNVs, red dots to deletions. Solid dots represent high-confidence CNV predictions.

      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.

      • Dual Variant Pre-Classification to categorize variants through machine learning-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 and HPO
      • Familial Variant Analysis to perform efficient trio analyses

      Variant interpretation is further facilitated by joining one of the largest networks of healthcare institutions. With the SOPHiA DDM™ platform, experts 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.

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      Webinars

      Robust CNV detection using whole exome sequencing for complex cases

      Advanced germline variant analysis with the SOPHiA DDM™ platform

      Are you looking for streamlined analytical workflow to quickly and accurate detect genetic variants predisposing to inherited disorders? Join our expert, Dr. Bernardo Foth (Director Bioinformatics Product Development at SOPHiA GENETICS) and learn how the SOPHiA DDM™ platform helps you deal with the vast amounts of genetic data coming from both targeted and exome applications to accurately detect the variants of interest.

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      Resources

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      Learn more about our exome solutions

      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.

      A universal health data analytics platform for a decentralized approach to healthcare

      SOPHiA Whole Exome Solution

      Our sample to report solution supports the researchers in accelerating assessment of variants associated with rare and inherited diseases.

      A universal health data analytics platform for a decentralized approach to healthcare

      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.

      A universal health data analytics platform for a decentralized approach to healthcare
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      Related genomic solutions

      SOPHiA DDM™ for Oncology

      Easily manage and efficiently explore your genomic data to characterize and report relevant alterations associated with solid tumors, hematological malignancies, and inherited cancers.

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      SOPHiA DDM™ for Cardiology

      Reduce your turnaround time with a streamlined workflow to accurately identify variants linked to the most prevalent inherited arrhythmias and cardiomyopathies.

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      Delivering deep, impactful insights to BioPharma

      Leverage our broad real-world genomic database and AI-driven analytics to support your clinical development strategy and:

      • gain insights into biomarker testing practices
      • streamline biomarker-driven clinical trial enrollment
      • accelerate drug development process
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      1. Shire Rare Disease Report, 2013
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