“Artificial intelligence enables us to find relationships faster, draw more exact conclusions about relationships in the data, and discover patterns that cannot be found with traditional methods.”

Dr. Volkmar Weckesser, Chief Information Officer

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CENTOGENE’s Artificial Intelligence Initiative

Accelerating diagnosis and orphan drug development

CENTOGENE has been deploying artificial intelligence (AI) in its diagnostic workflow since early 2017.  This is based on the fact that we have the world’s largest repository of genetic knowledge including clinical, genetic, metabolomics, and proteomic data across more than 2.0 billion data points and more than 450,000 analyzed cases.

Importantly, AI is a key driver that is enabling orphan drug discovery – reducing the time and costs it takes to develop a successful treatment for rare disease patients.


Strategic AI Priorities

Drive the highest quality and efficiency for genetic diagnostics

Discover new insights in rare diseases that cannot be found with traditional methods

Enable pharma solutions with new discoveries and insights

Our AI programs currently encompass:

Biomarker Discovery

Biomarkers – defined as quantifiable readouts such as metabolites or small molecules in the body's fluids – allow the easy identification of patients, the quantification of the outcome, and correlate with the progress or improvement in the individual patient.

AI enables previously practically impossible results: the direct analysis of multiple measurements previously impossible because of diverging experimental conditions, enables the detection of combined biomarkers, as well as a driving drastic improvement of speed and reliability.

Automated Curation Support

CENTOGENE’s curators are responsible for the collection, association, update, and review of genetic and phenotypic data of cases analyzed at CENTOGENE to assure the highest level of data quality in CentoMD®.

Automated curation process supports CENTOGENE’s curation process - a set of rules encode the expert knowledge and classify newly incoming cases as well as reclassify the old ones if new genomic insights are made by research.

Variant Prioritization

In the diagnosis of rare disease patients, variant prioritization is a vital step in discovering causal variants in order to identify disease-causing mutations. Our variant prioritization tool has not only accelerated the diagnostics process but also outperforms other tools with regards to sensitivity and specificity for flagging ‘pathogenic’ and ‘likely pathogenic’ variants.

Read more in the recent whitepaper:
CENTOGENE’s Variant Prioritization: Big Data and AI Driving Rare Disease Diagnosis

Intelligent Character Recognition

Intelligent character recognition (ICR) at the sample entry stage enables us to fully digitize all information contained in sample order paperwork; CENTOGENE’s ICR achieves cutting-edge performance, even on handwritten texts.

Interested in Finding out More?

Contact us to talk about partnering with CENTOGENE on the development of AI tools for multi-omics or our solutions for diagnostics and orphan drug development.