Genomics  (Track)

CENTOMD^®, THE LARGEST VARIANT DATABASE FOR RARE DISEASES

Daniel Trujillano

Centogene AG, Schillingallee 68, 18057 Rostock, Germany

Abstract

Our ability to discover genetic variation in a patient is running far ahead of our ability to interpret it. Databases with accurate description of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here we introduce CentoMD^®, the largest genotype-phenotype database with main focus on rare diseases. CentoMD® is a browser based software that enables access to a comprehensive, curated, and growing repository of genetic and clinical information. It aids professionals in the evaluation of the genetic variants that have been identified in their patients. This enhances the validity of the genetic analytical workflow and facilitates genetic diagnosis, and therefore the evaluation of treatment options for patients with hereditary diseases. It correlates the clinical information of consented patients and probands of different ethnical backgrounds with a large dataset of genetic variants and biomarkers (when available). Unlike any other database, CentoMD® is also a valuable research tool that will allow and facilitate the identification of new disease genes by correlating novel genetic variants with specific, well defined phenotypes.