Diploid, Leuven, Belgium, an artificial intelligence (AI)-based software provider for rare disease diagnostics, and Genomenon, Ann Arbor, Mich, a genomic search company, are partnering to improve genome interpretation for rare disease diagnostics.
Using advanced machine learning and deep phenotype integration, Diploid’s Moon software enables users to go from variant call format to causal variant in minutes. The software was selected by Stephen Kingsmore, MD, DSc, at Rady Children’s Hospital, and resulted in establishing a world record for the fastest genome interpretation performed in a neonatal intensive care unit.
“Moon returns a very short list of variants that might be relevant for the patient’s phenotype—typically about 4–8 variants for exome or whole-genome data,” says Peter Schols, Diploid’s founder and CEO. “This breakthrough saves clinical laboratory scientists a lot of time compared to manually filtering and curating hundreds or even thousands of variants.”
“We wanted to make the process of evaluating the handful of remaining variants reported by Moon even more efficient,” says Cyrielle Kint, chief scientific officer at Diploid. “That’s why we are integrating with Genomenon’s Mastermind, the clear leader in genomic search engines.”
Genomenon’s Mastermind genomic search engine filters and prioritizes millions of articles about genomics to find the most useful and meaningful citations. The search engine saves scientists hours of literature curation per case, and improves the chances of finding key genetic information that could be critical for a patient’s diagnosis.
Integration of the Diploid software with Genomenon’s search engine will enable users to see which candidate variants are mentioned in relevant publications, and gives users direct access to Mastermind from Moon’s user interface.
“We’re thrilled to partner with Diploid to reduce the time needed to identify the cause of genetic illness that can be life-threatening,” says Mike Klein, CEO of Genomenon. “With integrated Mastermind search results, Moon users get an immediate view of the literature supporting each variant, and can speed their genomic interpretation for rare diseases.”
- New Guinness World Records Title Set for Fastest Genetic Diagnosis [online]. San Diego: Rady Children’s Hospital, 2018. Available at: www.rchsd.org/about-us/newsroom/press-releases/new-guinness-world-records-title-set-for-fastest-genetic-diagnosis. Accessed February 21, 2019.