Potential and challenges of exome sequencing
Protein-coding regions (exons) make up around 2 % of the genome (the entirety of genetic information). Nevertheless, 85 - 90 % of all disease-causing genetic changes are found in these exonic regions. Whole exome sequencing (WES), in which the exons of all known 22,000 genes are analyzed, is therefore a very efficient method with a high clarification rate. However, the restriction of sequencing to exonic regions has a significant limitation: pathogenic variants do not stop at exon boundaries. This is why we have further developed exome diagnostics in our laboratory in a targeted manner.
Our "plus": genome-wide coverage of clinically relevant regions
With our Whole Exome Sequencing plus (WESplus) approach, we are expanding exome sequencing to include additional target regions with clinical significance, such as regulatory or deep-intronic regions. Other, non-protein-coding regions are also included if disease-causing changes are described. We have compiled the additional target regions on the basis of current medical and scientific findings with our high level of in-house expertise. Our specially developed bioinformatic scripts guarantee that WESplus is always up to date.
With our WESplus approach, we can not only detect changes in individual bases or small insertions and deletions with high sensitivity and specificity. Changes in the number of copies can also be reliably detected. The mitochondrial genome is also completely sequenced.
WESplus offers particularly targeted diagnostics, is resource-saving and cost-efficient. Particularly important: our approach provides important clinical added value, especially for complex, non-specific clinical pictures.
