Making a difference with Moon

Invitae acquires Diploid and its AI engine Moon, which enables diagnosis in minutes using whole genome sequencing

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SAN FRANCISCO—Invitae Corporation has announced its acquisition of Diploid, a Belgian company that developed Moon — artificial intelligence (AI) software capable of diagnosing genetic disorders in minutes based on next-generation sequencing data and patient information.
Under the definitive agreement, Invitae has acquired Diploid for approximately $95 million, subject to certain adjustments, consisting of $32 million in cash and $63 million in Invitae common stock. The acquisition has already closed.
“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 addition of Moon to Invitae’s variant interpretation infrastructure extends the company’s ability to quickly and efficiently turn large amounts of genetic data and phenotypic information into actionable reports for patients and clinicians. The Moon technology is powerful and simple to use, says Invitae. When interpreting exome or whole genome data, geneticists must identify the one or two mutations responsible for the patient’s condition among the thousands of sequence variations observed. With Moon, geneticists can upload next generation sequencing data and 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 AI algorithms, a proprietary gene disorder model, and a continuously updated genetic evidence database. Invitae and Diploid have 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. 
“We are dedicated to building the best medical genetics diagnostic system in the world. With Invitae we are joining like-minded scientists creating a world-class genetic interpretation framework at scale,” added Peter Schols, founder and chief executive officer of Diploid. “By bringing these technologies together, we can help more patients benefit from in-depth genetic sequencing to move from searching for answers to finding a diagnosis and discussing treatments that can help.”
The speed and accuracy of genetic diagnoses enabled by Moon has real world benefits for patients. Rapid whole genome sequencing, interpretation and diagnoses have proven to be critical for the care of infants with genetic diseases in neonatal and pediatric intensive care units. As Moon can go from whole genome sequencing data to an answer very quickly, it could be instrumental for providing rapid and accurate care required for critically ill patients.

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