Multiomic Characterization of Rare Disease Patients

Dried Blood Spot (DBS) Methodology Study for Biomarker Discovery in Lysosomal Storage Disease (LSD)

Applying a multiomic approach to rare genetic diseases has great potential to synergistically generate truly novel insights. CENTOGENE is therefore complementing its rich phenomic and genomic datasets with data from untargeted metabolomics. A methodological description of the approach was recently published in Metabolites.


  • Corina-Marcela Rus
  • et al.