Healthcare software firm Sophia Genetics has entered into a new partnership with Qiagen that will pair QIAseq reagent technology with the Sophia DDM platform to enhance tumour analysis through next-generation sequencing (NGS).
The partnership will allow customers to order QIAseq panels that can be processed through Sophia DDM, a cloud-based platform that analyses data from various sources to enable entirely new research perspectives. The partnership will initially support somatic variant detection (an alteration in DNA that occurs after birth) using QIAseq Targeted DNA Pro panels for homologous recombination repair (HRR), a special type of biomarker test to find tumours that have certain mutations that may make them sensitive to PARP inhibitors in oncology.
“Sophia’s mission is to democratise data-driven medicine. To get there, we are partnering with reagent manufacturers so that our deep expertise in genomic analysis complements their solutions,” said Kevin Puylaert, VP Business Development at Sophia Genetics. “We have a strong and longstanding relationship with Qiagen and have used their products as part of our ‘bundle solution’ for years. Qiagen’s amplicon-targeted NGS technology has an outstanding reputation to be among the best. We are taking full advantage of the performance of both solutions in this collaboration and are very optimistic about the positive impact on medicine and research.”
The applications of Sophia DDM will support a wide range of applications using Qiagen kits. The goal is to allow customers to use Sophia Genetic’s Set-Up Program, an efficient and reliable process designed to establish and demonstrate the analytical performance of any test prior to it being carried out. This will enable customers to better and more efficiently design new workflows using QIAseq technologies.
The partnership with Sophia Genetics is planned to be expanded to other areas of analysis, including the use of QIAseq panels custom-made solutions. It is the inaugural partnership in Qiagen’s QIAseq Platform Partnership.
NGS has the potential to revolutionise the diagnosis and treatment of cancers and rare diseases but creates extremely large, complex, and noisy datasets for analysis. Without the right analytical technology, pinpointing causative variants and obtaining actionable insights from NGS data requires specialist skills, multiple resources, and considerable time. The Sophia DDM Platform uses machine learning with patented methods to efficiently call, annotate, and pre-classify variants from raw NGS data.