Ann Arbor firm’s genetic database in new partnership

The goal of the partnership is to put the most up-to-date genomic research at the fingertips of geneticists diagnosing genetic diseases.

Congenica is software for the analysis and interpretation of complex genomic data, enabling healthcare professionals to increase diagnostic yield and case throughput, maximize their workflow efficiency, and improve confidence in every diagnosis. Interpreted genomic data from Congenica supports rapid and accurate diagnoses, helping to provide patients with the treatment they need, faster than ever before.

With this partnership, Mastermind will be available to all Congenica users, including the United Kingdom’s National Health Service, as part of Congenica’s arrangement as the exclusive decision support platform provider for the NHS Genomic Medicine Service. Each Congenica user at the national network of UK laboratories that provide genetic testing for NHS patients will be given access to Mastermind Professional Edition, directly integrated within the Congenica platform.

Congenica users will be able to quickly access the genetic evidence associated with their patients’ variants and, with a single click, gain access to the full list of articles within Mastermind to shorten the search time required to clinically interpret a variant and support its pathogenicity.

A key driver in the decision to incorporate Mastermind is the breadth and depth of its coverage of genetic variants and published literature. Mastermind has indexed nearly 7 million full text articles and 500,000 supplemental data sets and covers more than 4.9 million variants found in the medical literature.

“Mastermind brings a new dimension to the Congenica platform, aiding variant interpretation by reducing the manual effort required to curate the rapidly growing body of genomic research, improving the likelihood of finding key genetic insights that could be critical for diagnosis,” said David Atkins, CEO of Congenica. “We believe that our growing number of global users will find a great deal of benefit from having Mastermind available with the Congenica platform.”

“We’re thrilled to partner with Congenica to put the most comprehensive and up-to-date genetic research in the hands of geneticists making clinical diagnoses.” said Mike Klein, CEO of Genomenon. “Our relationship extends Mastermind’s global reach, and coupled with Congenica, provides significant value in cutting turnaround time and increasing diagnostic yield for genetic labs.”

Genomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases. Its flagship product, the Mastermind Genomic Search Engine, is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield and assure repeatability in reporting genetic testing results. The company also licenses its Mastermind Curated Genomic Datasets to pharmaceutical and bio-pharma companies to inform precision medicine development, deliver genomic biomarkers for clinical trial target selection and support CDx regulatory submissions with empirical evidence. More at

Born out of pioneering research from the Wellcome Sanger Institute and the UK’s NHS, Congenica is headquartered in Cambridge, United Kingdom, with a global footprint across the United States and China. The Congenica platform is validated by the pivotal Genomics England 100,000 Genomes Project and is the exclusive clinical interpretation partner for the NHS Genomic Medicine Service. For more information visit

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