- Science & Education
- A journey to the future - Whole genome sequencing for the diagnosis of heterogeneous genetic disorders
A journey to the future - Whole genome sequencing for the diagnosis of heterogeneous genetic disorders
A journey to the future: whole genome sequencing for the diagnosis of heterogeneous genetic disorders
Last year CENTOGENE announced its new sequencing facility for rare hereditary disorders, which uses Illumina’s HiSeq X® sequencer. The HiSeq X® system performs whole genome sequencing, producing industry-leading data at the most cost efficient way available in the market today.
Some months after our journey started, our CSO Prof. Peter Bauer will explain CENTOGENE’s experience using this groundbreaking next generation sequencing (NGS) technology for the clinical diagnosis, give some insights in whole genome sequencing and show interesting clinical cases.
- The HiSeq X® system at CENTOGENE
- Introduction to Whole Genome Sequencing
- Whole Genome Sequencing at CENTOGENE
- CentoGenome® vs. currently available genetic testing
- Indications and key applications genetic testing
- Latest clinical cases
Peter Bauer received his board certification in Human Genetics in 2006 and headed the molecular diagnostic laboratory at the Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen. Moreover, he is Vice President of the German Society of Neurogenetics (DGNG). Peter has authored more than 140 publications in neurogenetics, oncogenetics, cardiogenetics and sequencing technology and is leading author of the ‘Guidelines for diagnostic next-generation sequencing’ (Eur. J. Hum. Genet. 2016).
Prof. Peter Bauer, MD
Chief Scientific Officer