The exome represents the entirety of all known coding exons of the human genome. Although only comprising 1 % – 2 % of the genome, a total of 89 % of all known disease-causing mutations are estimated to be located in these regions. Therefore, it is often reasonable to perform a targeted exome analysis. Application areas and objectives for exome sequencing are diverse and range from research on population genetics, genetic disorders or rare disease to tumor research.
CeGaT has broad experience in exome sequencing and offers a comprehensive service from DNA extraction from many materials to tailored data analysis. For data analysis, our clients benefit from our longstanding experience in human genetics and expertise in the tumor diagnostics field.
Our focus lies on delivering high quality results while processing sequencing orders. Each project is supervised by a scientist who is a dedicated project manager and contact person during the entire course of the project. Upon completion of a project, our customers receive a detailed report containing information regarding sample quality, sequencing parameters, bioinformatic analyses and references.