Rare Disease Report: CentoMD® provides a virtual encyclopedia of genetic information

One of the website for rare disease community - Rare Disease Report has shared exciting news about CentoMD® mutation database milestone - one billion collected alleles from over 200,000 patient samples.

CentoMD® provides a virtual encyclopedia of genetic information, allowing healthcare professionals to diagnose and treat rare diseases in a much more efficient, speedy and targeted manner,” Arndt Rolfs, MD, CEO of Centogene, explained.

The company believes that the research available within the database can assist healthcare professionals in diagnosing their patients efficiently, resulting in more effective treatments.

“Reaching over one billion alleles in our database CentoMD® is a tremendous milestone and will significantly improve the quality of any genetic data set, being the basis for further medical care", said Prof Rolfs in a press release.

The data within the database are based on clinically diagnosed individuals worldwide and include information on rare diseases regarding genetic location, protein changes, types of variation, and biochemical analyses. Healthcare professionals have access to standardized annotated genetic mutations and 57% of unpublished clinical variants. Subscribers can export relevant data to an excel file for their own personal records.

The most updated CentoMD® database gives clinicians access to over 5.2 million variants, with many variants detected by whole exome sequencing.

Clinicians are also able to perform symptoms-based queries based on Human Phenotype Ontology (HPO), and in return CentoMD® provides potential candidate genes and variants that can possibly define the symptoms of interest.

It is updated on a quarterly basis while a constant reevaluation of variants is carried out by Centogene. Approximately 18,000 cases are diagnosed each month and are added to the database. Healthcare professionals subscribed to the database are always notified of these changes to ensure they are giving the most accurate diagnosis for their patients.

Centogene believes that the motivation for researchers who research rare genetic diseases is based on a patient-centric attitude.

You can find on original article here.