SOPHiA - Version DDM - Cloud-Based Software Platform for Metabolism
From Rare and Inherited Diseases
Metabolic disorders are a major cause of morbidity and mortality, representing a growing health concern worldwide. Over the last decade, substantial progress has been made in the discovery of genetic variants influencing a range of metabolic diseases.1 The advances in next generation sequencing (NGS) technologies have contributed to elucidation of the pathogenic role of variants associated with metabolic phenotypes, leading to a significant improvement in the throughput and diagnostic rate. For robust and accurate annotation of variant and gene function, novel algorithms and inferential frameworks are continuously emerging to advance the research and better inform healthcare professionals.
Software Details
The SOPHiA DDM™ platform offers a streamlined analytical workflow (from FASTQ file to report), thus reducing turnaround time and increasing operational efficiency. Relying on the platform’s high-quality metrics, you can make better-informed decisions for a better care.
Using the SOPHiA DDM™ platform you can identify complex variants from the noisy NGS data confidently and rapidly. The platform features intuitive variant filters and prioritization options that maximize performance by also streamlining the interpretation process. In particular, the platform provides:
- Uniform coverage of the most relevant genes linked to metabolic disorders, such as MODY, familial hypercholesterolemia, dyslipidemia
- Accurate identification of multiple types of variants in one assay
- Intuitive variant filter options (e.g., Virtual Panel and Cascading Filters), machine learning-based variant classification (complementing the ACMG ranking), and the possibility to gain and share knowledge on relevant variants with peers through global and local user networks.
With SOPHiA DDM™, you also have access to Alamut Visual Plus™, a full-genome browser that enables comprehensive variant annotation and visualization. Alamut Visual Plus™ accelerates variant assessment by integrating numerous curated genomic and literature databases, guidelines, missense and slicing predictors, while also offering customizable reporting and local data management.
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