CENTOGENE drives CentoMD® - the world's largest mutation data base for rare diseases - to the next level

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. By analyzing thousands of genes across multi-cultural and ethnically diverse populations, CentoMD® is an ever growing systematically annotated dataset of identified variants correlated with clinical information and epidemiological data. It provides clear statements on clinical significance. Data from more than 74,000 diagnosed individuals and >22,000 genes are curated in detail, and the clinical significance of these variants is evaluated following strict guidelines and based on a sophisticated clinical Human Phenotype Ontology (HPO) system.

With the new release of CentoMD® 3.0, the medical community now has access to an advanced Phenotype-to-Genotype module that enables symptom-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.