The Next Generation Sequencing (NGS) has the potential of finding pathogenic variants responsible for complex phenotypes associated with rare diseases. The clinic sequencing and WGS appeared as reliable approaches for the diagnosis and characterization of rare diseases, especially those with complex phenotypes.
To find casual variants from vast and complex genomic data sets, scientists need an analytical platform that is dependable and easy to use (SOPHiA DDM™) that best suits the needs of each laboratory to detect and prioritize the exact pathogenic variants.
It allows prompt detection of genetic alterations present in the sample. Therefore, there is a follow-up, diagnosis, and proper treatment.
It can be used to find the Molecular Basis of Disease in an affected individual.
It detects genetic mutations related to the clinical phenotype of the patient with medical relevance. Therefore, it helps with the early detection and treatment of this kind of genetic disease.
SOPHiA Whole Exome Solution v2 is an NGS-based application that supplies a streamlined end-to-end workflow, from sample to variant report, to accelerate rare and inherited disease research.
This updated gene content is combined with the analysis and interpretation capabilities of the SOPHiA DDM™ platform.
SOPHiA Clinical Exome Solution v2 is a customizable solution covering 4,490 genes related to rare and inherited diseases, while SOPHiA Clinical Exome Solution v3 is designed with 4,728 genes, including the entire mitochondrial genome and variants with known pathogenicity in deep introns/enhancer/promoter genes.