Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of disease-specific biomarkers in a patient sample. The utility of this approach for deriving an unambiguous diagnostic statement was recently demonstrated in the Journal of Biochemical and Clinical Genetics.
Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of disease-specific biomarkers in a patient sample. The utility of this approach for deriving an unambiguous diagnostic statement was recently demonstrated in the Journal of Biochemical and Clinical Genetics.
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