ExomeFocus® is the result of our many years of experience in genetic diagnostics and bioinformatics, representing the most efficient approach for singleton exome diagnostics. The exome includes all protein-coding regions (exons) of the approximately 23,000 genes in the human genome. Although the exome accounts for only about 1-2% of the whole genome, approximately 89% of all known disease-causing mutations are identified to be located within the exons. In addition, our exome design also covers more than 28,500 non-coding variants described as disease-relevant in the databases HGMD and ClinVar.
ExomeFocus® is based on our proprietary, high-quality exome enrichment, providing deep and homogeneous coverage of all known disease-causing regions of the genome. Our in-house developed software uses our extensive in-house database of genetic variants as well as all publicly available databases to data-mine the patient’s exome for high-impact variants. Our scientific team then evaluates these high-impact variants to ensure clinical relevance for the patients’ phenotype.