P229: The eVai suggested diagnosis and VarChat: The enGenome AI ecosystem for variant interpretation

Genetics in Medicine Open 2026 Open access

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Authors: Susanna Zucca, Federica De Paoli, Silvia Berardelli, Ettore Rizzo, Ivan Limongelli
DOI: 10.1016/j.gimo.2026.103723
Cited by: 0

Abstract

Interpreting genomic variants remains a major challenge in rare disease diagnostics due to the volume of candidate variants and the complexity of integrating heterogeneous data sources. We present AI-powered solutions that apply explainable predictive modeling and generative literature intelligence to enhance both accuracy and transparency in genomic variant interpretation.

Fields of Study & Subjects

Genomics and Rare Diseases Artificial Intelligence in Healthcare and Education Explainable Artificial Intelligence (XAI)

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103723–103723
Publication date
1 January 2026
Language
EN