Our team at SOPHiA GENETICS continues to work to help advance the efforts of SARS-CoV-2 surveillance and research. During the first stages of the pandemic, we leveraged our experience in NGS and developed a robust solution for full-genome analysis of SARS-CoV-2 to identify circulating and emerging strains. Recently, our genomic experts have worked with international partners to offer new guidelines in amplicon-based SARS-CoV-2 genotyping, overall improving data quality and confidence.

Going beyond the detection and surveillance of emerging strains, including the B.1.1.7 “UK variant” or the B.1.167.2 “Indian variant”, the SOPHiA DDM™ platform enables the analyses of individual mutations.

As we continue to advance the analyses of SARS-CoV-2, our research experts have identified an important and novel mutational hotspot.

Our researchers recently reported a striking increase in the frequency of recruitment of diverse substitutions at a critical residue, W152, positioned in the N-terminal domain (NTD) of the Spike protein. The NTD is the most rapidly mutating part of the Spike protein, and these substitutions at position W152 have been observed repeatedly across independent phylogenetic and geographical contexts.

W152 is an important interaction point for neutralizing antibodies, and these frequent mutation recruitment events were reported with a clear increase in intensity since the end of 2020 (week 55 of the pandemic). Notably, researchers have reported this specific mutation has spurred >150 clusters that directly or indirectly contributed to contaminating over 15,000 patients.

As vaccination efforts improve around the globe, this research SOPHiA DDM™ platform enables continues to be fundamental to better understand the variants that “escape” immunity.

Read the full publication here

At SOPHiA GENETICS, we believe that diversifying data modalities is the key to have better insights on diseases. That’s why, on top of genomics, our Radiomics R&D team is working on medical imagery analysis.

Applying their expertise to oncology specifically, members of the team just co-signed a newly published peer-reviewed paper hand-in-hand with several of our key partners in France. This promising paper, published in Neuro-Oncology, described the development of new evaluation criteria of treatment response in clinical trials for high-grade meningiomas.

Their observations and results support the need of the clinical community for new and improved evaluation criteria. Some criteria used in oncology today have not kept pace with the advances of precision medicine. Our team aimed to develop alternatives that have the potential to be better indicators of the response to current and future treatment protocols. Modern technologies such as AI, machine learning, and image segmentation can help develop imaging biomarkers that have the potential to redefine today's gold standards.

Thierry Colin, VP of Radiomics research at SOPHiA GENETICS and co-author of the paper, said: "We believe that radiomics capabilities can help better analyze clinical trials even in very complex situations and hope that it can be applied to everyday clinics as well in the future."

Thomas Graillon, neuro-surgeon at the Hospital La Timone in Marseille, France, and principal author, added: “Mathematical analysis performed by Thierry Colin’s team discriminated various response patterns to targeted therapies for aggressive meningiomas. Complementing the existing 6-month progression free survival method, this research enables new tools for the assessment of meningioma clinical trials and, in particular, the assessment of antitumoral drug activity in meningioma.”

Read the paper here.