SOPHiA AI Unlocks the Power of Exome Sequencing for Clinical Diagnostics

Today, only 25% of rare diseases are accurately diagnosed1. With SOPHiA's applications for exome analysis, this is set to change. The exome is the protein-coding region of the human genome, which represents just 1% of the genome but contains approximately 85% of known disease-causing genetic variants2. SOPHiA takes exome sequencing to new heights, allowing for unmatched analytical performances to detect, annotate and pre-classify disease-related genetic variants over all protein-coding regions of the human genome. Exome sequencing generates large amounts of sequenced data.