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Mutation Database – CentoMD®

CentoMD® offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes from more than 115 represented countries.

Articles on Mutation Database

  • A Novel Genetic Syndrome

    Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for yet undescribed gene-disease associations. As a recent example, bi-allelic loss-of-function variants…

  • Characterization of an Ultra-Rare Disorder

    Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of…

  • An Unorthodox Disease Mechanism

    Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of…

  • Disease relevance of alternative splicing

    Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a representative example, emphasized the resulting challenges in a recent study. They…

  • Diagnostic Utility of Biomarkers

    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…