O24: STELLAR-AIM: State-of-the-art genetic differential diagnosis by AI using knowledge extraction from literature, and metabolomic, genomic, and phenotypic data
Abstract
Diagnosis of rare diseases such as Arginase 1 Deficiency or Batten Disease, and complex heterogeneous diseases like Parkinson's Disease, typically begins with analyzing genetic variants for pathogenicity. However, analysis of Undiagnosed Disease Network (UDN) data reveals that only 128 of 1,458
Fields of Study & Subjects
Genomics and Rare Diseases
Artificial Intelligence in Healthcare and Education
Biomedical Text Mining and Ontologies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104311–104311
- Publication date
- 1 January 2026
- Language
- EN