NEW YORK (GenomeWeb) – Sophia Genetics today announced agreements with two German university hospitals for the use of the company's platform to run and validate a next-generation sequencing-based test for hereditary breast and ovarian cancer.
The University Hospital in Düsseldorf and University Hospital Cologne will use Sophia's Data Driven Medicine Platform (DDM) to run and validate the TruRisk gene panel, an NGS-based test developed by the German Consortium of Hereditary Breast and Ovarian Cancer, of which the Düsseldorf and Cologne hospitals are members. TruRisk detects mutations in more than 30 genes that have been associated with a risk for the development of breast and ovarian cancers, Switzerland-based Sophia said.
The University Hospital in Düsseldorf previously collaborated with Sophia to validate the company's technology in detecting copy number variations in routine diagnostics, Sophia said.
DDM is a software-as-a-service platform for routine diagnostic testing that integrates modules for clinical NGS data analysis, according to Sophia's website. The core module, Sophia Clinical Genomics, processes and analyzes data from multiple gene panels, as well as exomes and genomes from raw patient DNA sequence data. DNA sequence files are automatically uploaded and processed via algorithms and machine learning.
Last week, Sophia announced it obtained CE-IVD marking for a solution to detect copy number variations in BRCA1 and BRCA2 genes.