Genomic sequencing continues to transform rare disease diagnostics, giving patients on long diagnostic journeys a real path to answers. Yet interpreting the genetic variants these tests uncover remains a major challenge, given the sheer volume of rare, uncharacterized variants in every exome or genome and the inconsistency in how different laboratories approach classification.
Nostos Genomics' latest white paper explores how the AION platform helps labs overcome these obstacles. Powered by AI, AION automates much of the variant interpretation process, helping teams move faster from raw genomic data to clinically meaningful insights. The platform offers refined variant classification and prioritization logic, supports analysis informed by patient phenotype data, and works natively with current genomic standards including both GRCh37 and GRCh38. AION also handles copy number variants (CNVs) and structural variants (SVs) in addition to small variants, extending its reach across the diagnostic workflow.
AION's development is closely aligned with regulatory requirements. Through robust validation protocols, the platform adheres to the dynamic lifecycle management standards expected of Software-as-Medical-Device (SaMD), reinforcing its standing as a trusted tool for clinical use.
This white paper details the analytical and clinical performance of AION version 3.21.0.0, evaluated across multiple data cohorts. The results reinforce AION's ability to support accurate, efficient diagnostics, including in the more variable conditions typical of real-world clinical settings.
Access the full white paper here to learn more about AION's design, its latest performance results, and the methodology behind its role as a leading AI-driven solution in genomic diagnostics.
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