Enhancing Rare Disease Diagnostics: Updated Performance Evaluation of the AION AI-Driven Variant Interpretation Platform

The rapid evolution of genomic technology has revolutionized rare disease diagnostics, offering hope to patients navigating complex diagnostic odysseys. However, interpreting genetic variants remains a significant bottleneck, exacerbated by the sheer number of uncharacterized variants in each exome or genome and the variability in laboratory practices.

Nostos Genomics’ new white paper delves into how the AION platform addresses these challenges. Leveraging cutting-edge AI, AION automates the interpretation of genetic variants, streamlining the identification of clinically relevant insights. Key features include advanced variant classification, real-time updates with phenotypic data, and compatibility with the latest genomic standards like GRCh38. AION also supports the interpretation of novel variant types such as copy number variations (CNVs) and structural variants (SVs), broadening its utility.

AION’s development aligns with the regulatory requirements. By integrating robust validation protocols, the platform not only adheres to the dynamic lifecycle management standards for Software-as-Medical-Device (SaMD) but also secures its position as a trusted tool in clinical environments.

The white paper presents results of the analytical and clinical performance of AION version 3.10.0.0 across various data cohorts. The findings underscore AION’s capability to enhance diagnostic accuracy and efficiency, even in complex clinical settings

Download the full white paper here to explore the details of AION’s design, performance metrics, and methodologies that position it as a transformative tool in genomic diagnostics.