About the study and speakers
We developed AION, a variant interpretation software platform for diagnostic WES and WGS. To validate the clinical performance of our software, we analyzed genomic and clinical data from patients with rare genetic diseases recruited as part of the 100,000 Genomes Project initiative from Genomics England. These individuals’ data is available through Genomics England’s research environment.
AION provides fast, accurate, and interpretable variant interpretation across pediatric and adult cohorts, individuals with different monogenic conditions and individuals of different ethnicities. Automated variant interpretation with a clinical performance comparable to that of a human expert can support the analysis of clinical genetic tests, decreasing the time and costs associated with this crucial process, while increasing reproducibility and diagnostic yield.