HERO-Genomics: An Ontology for Integration and Access of Multicenter Genomic Data

The Hereditary Ontology for Genomic Data (HERO-Genomics) facilitates the structured representation of genomic information, with an initial focus on documenting genomic variations related to Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS). The current release provides a framework for capturing specific sequence variations, focusing on Single Nucleotide Variants (SNV). HERO-Genomics is a component of the broader Hereditary Ontology (HERO), developed to model the gut-brain connection from phenoclinical and genomic viewpoints. HERO serves as the backbone of the Semantic Data Integration platform for the HEREDITARY project, utilizing the Ontology-Based Data Access (OBDA) paradigm to query heterogeneous and distributed data respecting legal constraints.