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
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Collaborative Discovery of Gene-Disease Associations
The delineation of novel genetic disorders is facilitated by the formation of global research consortia. By actively contributing to collaborative efforts, CENTOGENE has supported dozens of gene-disease discovery projects over the past years. One such example was recently published in Genetics in…
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NEW CentoXome – Turning Years Into Days
Throughout the CentoTalk, Maximilian Schmid, M.D., and Jorge Pinto Basto, M.D., will provide a detailed overview of CENTOGENE’s new and enhanced Whole Exome Sequencing (WES) solution.
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Sharing Diagnostic Insights to Support Rare Disease Patients
Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A…
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Modifiers of Genetic Disease
Therapeutic strategies for monogenic diseases may be derived from the identification and understanding of disease-modifying factors. Researchers at CENTOGENE have been applying this rather novel approach, including in collaborative settings with academic colleagues from institutions around the…
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A Novel Genetic Cause for Autoinflammation
Genetic inflammatory disorders are quite rare, particularly those presenting with a pathological increase, rather than decrease, of inflammatory activity. A global consortium, of which CENTOGENE was a part of, recently identified a novel autoinflammatory disorder that primarily affects the nervous…