How are transcripts selected in the SOPHiA Platform regarding variant annotation?

The SOPHiA Platform evaluates the impact of each variant using all RefSeq (NM) transcripts of the gene. 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 minimise the probability of missing a potentially pathogenic mutation.