A recent press release states, “Invitae Corporation, a leading medical genetics company, announced today the acquisition of Diploid, a privately held Belgian company that developed Moon, artificial intelligence (A.I.) software capable of diagnosing genetic disorders in minutes based on next-generation sequencing data and patient information. The addition of Moon to Invitae’s state-of-the-art variant interpretation infrastructure extends its ability to quickly and efficiently turn large amounts of genetic data and phenotypic information into actionable reports for patients and clinicians. ‘The addition of Diploid’s software to Invitae’s best-in-class variant interpretation platform will provide an immediate increase in throughput, improving the customer experience and lowering COGS for our exome offering, further extending the advantage of Invitae’s platform to the benefit of clinicians and their patients,’ said Sean George, co-founder and chief executive officer of Invitae. ‘More importantly, this technology will help us accelerate progress toward the routine use of whole genome sequencing in addition to panel and exome testing, ultimately helping more patients get the diagnosis they need, sooner’.”
The release goes on, “Moon is powerful and simple to use. When interpreting exome or whole genome data, geneticists must identify the one or two mutations responsible for the patient’s condition among thousands of sequence variations observed. With Moon, geneticists can upload next generation sequencing data, enter a patient’s symptoms and age of onset, and the causal variants are suggested within minutes. The speed and accuracy of Moon is powered by A.I. algorithms, a proprietary gene-disorder model, and a continuously updated genetic evidence database. Invitae and Diploid successfully completed a pilot study of the performance of Moon and found that in 94% of the 150 previously-solved exome cases, the causal mutation was found within the top three of Moon’s ranked list of sequence variants.”
Read more at PR Newswire.
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