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Multiomic Characterization of Rare Disease Patients

Corina-Marcela Rus et al.
Juni 13, 2021

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.