SOPHiA GENETICS

The SOPHiA DDM™ platform delivers accurate insights 

Powered by artificial intelligence (AI), the SOPHiA DDM™ platform provides a safe, secure, and instantly accessible environment to generate insights across complex genomic and phenotypic datasets. You test your own samples and retain ownership of your data while the SOPHiA DDM™ platform provides analysis and insights across multiple disorder areas, from oncology to inherited disorders. Designed to be secure, the platform offers a streamlined end-to-end workflow (from raw data to variant reports) with machine learning-patented algorithms to detect, annotate, and classify multiple types of variants in a single assay at a high level of accuracy. Platform features include:

Machine learning and ACMG-based pathogenicity ranking to classify variants confidently

Wide ranges of databases (e.g., such as OMIM, ClinVar, GnomAD, G1000, SIFT, MutationTaster) to reach a comprehensive variant annotation

Multiple filtering functionalities (e.g., Cascading filters, Familial Variant Analysis and Virtual Panel) to pinpoint the most relevant variants

Jax-CKB integration through the OncoPortalTM Plus to acquire clinical decision support insights for each variant

Customizable variant reporting and user-friendly interfaces to explore genomic variants without bioinformatics expertise

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