Image above: Screenshot of AION showing a sample variant and its ACMG interpretation.
Author: Pablo Botas, PhD, Scientific Product Manager AION
On November 15th, we reached a new milestone in variant interpretation for rare diseases with the release of a major update to AION. In this update, we are powering our AI-based solution with a new infrastructure that can constantly update AION with the latest algorithms, pipeline improvements, public databases and data extracted from publications. This ensures that the latest insights are constantly integrated into AION. This is, however, not the only major update to AION.
Updates to ACMG implementation
Apply and remove criteria as you see fit dynamically updating ACMG classification. Criteria automatically applied by our ML algorithm can also be modified and are marked with a symbol for explicability. We also now automatically apply PS2, PVS1, PM2, PM3, and PM6.
An improved results view for easier interpretation
Disease symptoms are now shown, and those shared with the case are highlighted to help the user judge the clinical overlap. AION also now shows compound heterozygous candidates and second hits next to each other. Links have also been added to Orphanet, Pubmed search and Google Scholar search.
AION now supports WGS. The interpretation is performed in exomes ±50bp and known intronic variants. Support for larger files has also been improved, with significantly improved stability and speed in processing files that are over 1GB.
A brand new look and better user experience
We already liked the look of AION, but it got better. We updated the user interface, making AION even easier to use. Interfaces for case tables, the submitting process, case details and variant cards are overhauled, as well as an improved reporting functionality for errors.