The SOPHiA DDM™ Platform evaluates the impact of each variant on all transcripts of the gene in the kit. For each variant, the platform displays the transcript for which it is most deleterious. The variant annotation (coding consequence, cDNA HGVS nomenclature, protein effect) is then provided relative to this transcript. This method is used to minimize the probability of missing a potentially pathogenic mutation.
- Liquid biopsy analysis: Screening for clinically relevant information
- SOPHiA GENETICS Announces Expansion of Work with CHU de Nîmes
- SOPHiA GENETICS Expands Relationship with Città della Salute e della Scienza di Torino
- The Institute of Human Genetics, Polish Academy of Sciences (IHG PAS) is Live on SOPHiA GENETICS
- BioReference® Signs On as the First Laboratory to Use MSK-ACCESS® Powered with SOPHiA DDM™