Disease association study of Autoimmune and autoinflammatory diseases by integrating multi-modal data and hierarchical ontologies.

ABSTRACT:

Background

Autoimmune and autoinflammatory diseases (AIIDs) are characterized by significant heterogeneity and comorbidities, complicating their mechanisms and classification. Disease associations studies, or diseasome, facilitate the exploration of disease mechanisms and development of novel therapeutic strategies. However, the diseasome for AIIDs is still in its infancy. To address this gap, we developed a novel framework that utilizes multi-modal data and biomedical ontologies to explore AIID associations.

Methods

We curated disease terms from Mondo/DO/MeSH/ICD, and three specialized AIID knowledge bases, creating an integrated repository of 484 autoimmune diseases (ADs), 110 autoinflammatory diseases (AIDs), and 284 associated diseases. By leveraging genetic, transcripto

SUBMITTER: Liu A 

PROVIDER: S-EPMC12174166 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature