We interact closely with teams from the Center of Human Genetics (CME) and facilitate the translation of these novel technologies in clinical applications and our diagnostic activities have become an important component of our activities. The interaction between research and diagnostics leads is beneficial for both activities. Our diagnostic activities benefit from the rapid implementation of novel technologies in a clinical setting and the research projects benefit from the stable and robust protocols and bioinformatic pipelines developed for the diagnostic applications.

Research applications

  • Whole exome sequencing
  • Whole genome sequencing
  • RNAseq epigenetic analyses
  • Targeted resequencing
  • PacBio Haplotyping

Clinical applications

  • Familial Cancer Syndromes
  • Rare genetic diseases (including clinical exomes)
  • Cancer Genetics
  • Non invasive prenatal testing (NIPT)
  • Preimplantation genetic testing (Single-cell genotyping)


  • DNA analyses
  • RNA analyses
  • Methylation analyses
  • Bioinformatic analyses

The expert teams

  • Prof. Joris Vermeesch
  • Prof. Gert Matthijs