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
CentoMD® is a browser-based tool that enables access to a high-quality repository of genetic, biochemical and human phenotype ontology (HPO)-based clinical information. All patients provided informed consent before inclusion in the DB.
"The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we…
During the webinar, you will learn how CentoMD® 3.0 will become your simple five-step solution, where you easily can search, filter, select, explore and download genes, transcripts and variants and ending with a comprehensive genetic summary including all associated data tailored to your needs.