Analytical platform for clinical genomics that enables the detection, annotation, and interpretation of genomic variants using artificial intelligence to support patient diagnosis and treatment.
Detailed Description
SOPHiA DDM™ Platform is an advanced solution for precision medicine workflows, with a renewed interface, web access, and new functionalities to accelerate genomic data analysis. It offers end‑to‑end workflows for the detection, annotation, and pre‑classification of genomic variants from complex NGS data, facilitating decision‑making in oncology, rare diseases, and hereditary disorders.
Principle of operation
SOPHiA DDM® is a web‑based platform powered by artificial intelligence designed for genomic data analysis, automatically performing quality control, alignment, and variant detection. It then executes a comprehensive variant annotation from multiple sources and pre‑classifies them into different pathogenicity categories. The platform facilitates interpretation through integrated databases and allows the generation of custom variant reports.
Clinical applications
It is aimed at genomic analysis in oncology, rare diseases, and hereditary disorders. The platform is designed to facilitate rapid and confident decision‑making through the detection, annotation, and pre‑classification of genomic variants.
Benefits
In genomics, the platform helps overcome bottlenecks by:
Intended user / audience
Solution aimed at clinical genomics laboratories, healthcare institutions, and precision medicine teams that need to integrate genomic analysis workflows in areas such as oncology, rare diseases, and hereditary disorders, with the ability to work in IVD or RUO environments depending on the application and the corresponding mode of use.
