A Collaborative Breakthrough in Cancer Research
In the journey of scientific discovery, collaboration between researchers and digital service providers can yield impactful results. Our team recently worked alongside an international group of scientists, contributing not only our digital expertise but also actively participating in the research process itself. This study, published in a recent lancet publication, focused on identifying genetic variants linked to adrenocortical tumors (ACT) in children carrying the TP53 p.R337H mutation, which is notably prevalent in southern Brazil.
By combining our technical capabilities with the researchers’ expertise, we helped analyze large genomic datasets using AI-driven approaches. This enabled a more efficient examination of whole-exome sequencing data, critical to uncovering insights in this complex genetic study.
Our collaboration extended to the design and application of AI models that assisted in identifying key genetic variants associated with ACT. One important discovery was the rs2278986 variant in the SCARB1 gene, which may serve as a marker for early detection and risk stratification of ACT in children. This finding holds great promise for future screening and preventive measures.
Working closely with the research teams, including partners at a prominent Brazilian institute, we are proud of the role we played in advancing this important study. The collective effort highlights how partnerships across different domains can accelerate scientific progress, ultimately benefiting the broader healthcare community.