In this white paper: How new developments in machine learning support scalability in genomic research.
Genome sequencing has the potential to resolve rare undiagnosed diseases. Yet, modern genomic tests do not lead to a diagnosis for every patient. Many patients undergo a diagnostic odyssey prolonged by the challenge of reviewing hundreds of DNA variants to assess their implications for disease. To overcome the variant interpretation bottleneck, clinical laboratories need rapid technological innovation. The next frontier in genomic testing lies in solutions that leverage artificial intelligence (AI) to improve existing processes. AION is the flagship AI-driven platform for rare disease variant interpretation, developed by Nostos Genomics. AION supports analysts to diagnose rare diseases faster using a machine-learning model trained on millions of high-quality genetic variant data points. When applied to cases from the 100,000 genomes project, AION identified the causative variant with a sensitivity of 91.5%, increasing to 93.1% when parental information is provided and 94% in paediatric patients. AION empowers clinical laboratories and genetic testing services to deliver accurate, timely, reproducible variant interpretations for rare disease patients.
In this white paper, we uncover answers to key questions in rare disease genomics:
- What are the current barriers to accurate variant interpretation?
- What is the role of artificial intelligence in scaling variant interpretation?
- How does AION modernise genomic testing for rare diseases?