CentoMD®, the world’s largest genomic database for rare disease, maintains with its recent release v3.1 approx. 3 million identified alleles, disease-associated polymorphisms, benign polymorphisms and other known variants of undetermined significance, thereof 57% of unpublished data. CentoMD® encompasses genetic information and clinical data from more than 100,000 people worldwide.
“The fast grown era of mass data produced by whole exome and whole genome sequencing demands unprecedented access to all available information within the shortest time. The collaboration with IBS will clearly reduce the time for diagnostic workflows needed for making sound decisions of clinical relevance. Furthermore, especially in those ethnicities typically not adequately represented in existing data banks, like Canadian, Latin American or Arabic, the collaboration will increase the quality of all diagnostic processes.”, stated Prof. Arndt Rolfs, CEO of Centogene AG.
Alamut Visual is a decision-support software application that integrates genomic information from different sources and prediction algorithms in one convenient environment to describe variants and helps interpret their pathogenic status. Alamut® Visual is used by clinical and research molecular laboratories worldwide. It is the software of choice for leading university medical centers, hospitals, and private human genome laboratories.
“We are keen on providing clinical users with the most relevant and extensive data sets to help them in the complex task of interpreting genomic variations. By enriching Alamut® Visual with CentoMD variants, we expect to increase Rare Disease scientists’ ability to efficiently assess variants, especially in populations insufficiently represented in other databases.”, said André Blavier, CEO of Interactive Biosoftware.
CENTOGENE and IBS are looking forward to helping interpret the pathogenic status of detected genetic variants, with special focus on not yet published data.
About Interactive Biosoftware
IBS, the software company located in France, offers a complete solution to the tasks of variant annotation, filtration, interpretation and reporting with the Alamut Software Suite. IBS is changing genetic diagnostics and research as we know it by simplifying the mutation interpretation process, while saving scientists time, improving outcome quality and enhancing productivity.
For more information, please visit www.interactive-biosoftware.com