One of the most popular applications of our customers is whole exome sequencing (WES). At c.ATG, we use Agilent products to enrich the exonic regions of the human or mouse genome. This approach is much cheaper than WGS and will often yield the most relevant information, because it focuses on the coding regions of the genome. For humans those comprise about 3 % of the whole human genome.

A prominent application of WES lies in cancer research. For instance, comparing tumor exomes with a normal tissue control (blood or healthy tissue from the organ of origin) from the same patient will produce insight into the genetic landscape of mutations in the tumor, which can lead to better treatment choices. In addition, analyzing changes in tumor mutation spectra between primary tumor and metastases, or between samples taken before, during and after treatment can be very informative.

Many other diseases are also studied successfully with WES. In particular in cases where focused approaches such as the sequencing of a single target gene, of gene panels or the use of cytogenetic or microarray analyses did not solve the case WES analyses of patients and their family members can lead to the discovery of disease-causing mutations. c.ATG provides its services for the elucidation of individual cases and the study of cohorts of patients. It has a longstanding expertise in the vast field of neurology and the study of rare diseases as evidenced by its collaboration with the ZSE (Zentrum für Seltene Erkrankungen, i.e. center for rare diseases).

Our in-house analysis pipeline was developed to filter the tens of thousands of genetic differences, which are known to exist between individuals, to identify the mutations relevant for the disease context. We utilize internal and external databases and multiple prediction tools to classify mutations and narrow the list down to the most likely candidates to arrive at a meaningful report. To learn more, check our bioinformatics section.