Contributions to WGS Guidelines for Rare Disease Diagnostics

Recommendations for whole genome sequencing in diagnostics for rare diseases

Proper genetic diagnostics relies on up-to-date guidelines. These have recently been revised for Whole Genome Sequencing (WGS) by a panel of European experts. CENTOGENE’s Chief Genomic and Medical Officer Prof. Peter Bauer was an invited member of this panel, underlining that CENTOGENE is well-recognized in the field of genetic diagnostics. The revised guidelines were published in the European Journal of Human Genetics.


  • Prof. Peter Bauer , MD
  • et al.