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Sep 2021

Large scale validation study using Genomics England data

"We are proud to announce that we have signed an agreement with Genomics England to use their data for a large-scale research study to further validate the performance of our proprietary AI-based platform." (Rocío Acuña, Co-Founder & CTO of Nostos Genomics) 

Over 300 million people in the world are affected by a rare genetic disease. Patients with rare genetic diseases take an average of 5 years between the first onset of symptoms and final diagnosis, often going through multiple visits, referrals, and series of medical tests along the way. This results in delayed medical care, affects patients' quality of life and imposes high costs on health care systems. Exome and genome sequencing can help diagnose patients with rare genetic diseases by identifying the mutations in their DNA that cause their disease. Analysing a genetic test to find disease-causing mutations is a crucial step in genetic testing called variant interpretation. Currently, variant interpretation is a manual and laborious process, making it time-consuming and costly, and often yielding inaccurate or uncertain results. Less than 50% of patients with rare genetic diseases who undergo exome or genome sequencing receive a definitive diagnosis, which is critical for appropriate medical care.

We have developed machine learning algorithms for analysing genetic tests to diagnose rare genetic diseases (specifically for variant interpretation in exome and genome sequencing). Our goal is to automate the variant interpretation step for genetic testing to reduce the cost, turnaround time, and other constraints associated with this manual process.

We will use the Genomics England dataset to further validate the performance of our algorithms and confirm that they can be widely used in the clinic to reliably automate the analysis of genetic tests. For patients with rare genetic diseases, this means earlier access to a clear molecular and clinical diagnosis, which is essential for appropriate medical care and informed medical decisions. Finally, shortening the pathway from the first appearance of symptoms to diagnosis leads to better outcomes for patients with rare diseases while reducing costs for healthcare systems by reducing the number of patients receiving unnecessary tests and medical interventions.

Want to learn more about what we are doing? For more information, please get in touch via the "Contact" link at the bottom of the page or e-mail us at

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