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.

Tag: Tertiary Analyses