Samsung SDS Genomics has an analytical tool that computationally analyzes DNA sequencing data from a patient’s tumor, or a subject’s blood sample, to identify disease-related genetic variations. Our partnership with Samsung SDS focuses on assessing genetic variations so that medical staff can more effectively prevent, diagnose, and treat diseases, including cancers and genetic disorders.
One of the key attributes of Samsung SDS Genomics is the ability to identify clinically actionable, inherited (germline) pathogenic mutations by analyzing targeted sequencing data from a DNA sample. The resulting report provides prevention or early intervention guides for the relevant diseases as well as detailed genetic evidence.
The Samsung tool can identify 12 targeted genes related to hereditary cancer and 7 for recessive genetic disorder; this information is then used to help prevent the onset of disease. Relevant hereditary cancers include breast, ovarian, colorectal, stomach, and thyroid, among others while the relevant genetic disorders include Wilson’s disease, cystic fibrosis, G6PD deficiency, sickle cell anemia, beta-thalassemia, and deafness. The Samsung team is currently working to evaluate and update more clinically-actionable genes in order to improve the early detection capabilities of the genomics tool.
Samsung SDS: “System and Method for Aligning Genome Sequence” in Patent Application Approval Process
Cancer Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing