CENTOGENE drives CentoMD® - the world’s largest mutation data base for rare diseases

CentoMD®, the world’s leading proprietary human genetic interpretation database, is based on the knowledge created by our worldwide diagnostic testing services incorporating unprecedented global diversity. With the new release of CentoMD® 3.0, the medical community now has access to an advanced Phenotype-to-Genotype module that enables symptoms-based queries and returns candidate genes as well as associated variants underlying the symptoms of interest. Vice versa, the Genotype-to-Phenotype module provides an interactive search interface to select and filter through genes, transcripts, variants. It enables users to access detailed variant and individual-related data based on ~2.2 million classified variants, including variants detected by whole exome sequencing.

“Understanding the burden of a disease to a patient, especially if it is a rare hereditary disease, is the daily work of us physicians. Revealing the cause of a disease will have an immediate impact on the patient. With CentoMD®, we continuously enhance the interpretation of mutations with a remarkable ratio of 56% not yet published clinical relevant variants and mutations. Using all available information allows physicians to diagnose and treat hereditary diseases in a much more efficient, speedy and targeted manner,” stated Professor Arndt Rolfs, CEO of CENTOGENE.