Whole Exome Sequencing (WES) in the clinical practice
Most of the human inherited disease-related mutations identified thus far are located in the exons. Indeed about 60% of all disease-causing mutations in Mendelian disorders are most likely to be found within these coding regions. Therefore medical answers are likely to be obtained with high probability through the sequencing of the complete exome.
During the webinar, our Medical Director Dr. Oliver Brandau will introduce the technique whole exome sequencing and present different clinical cases, with the goal to demonstrate “how”, “why” and “when” to use whole exome sequencing.
- Introduction to whole exome sequencing
- Demonstration of “how”, “why” and “when” to use whole exome sequencing
- Usage of HPO terms for patient/syndrome clustering
- Clinical case examples
- Understand how our whole exome sequencing service (CentoXome®) will support you to increase your diagnostic rates
Dr. Brandau studied medicine and graduated at the Free University Berlin. He gained ample experience in human genetics at the human genetics department of the LMU Munich and the medical university Vienna.