AJIA

AJIA integrates Variant Call Format (VCF) genetic variant data with Web Ontology Language (OWL) biomedical ontologies by transforming them into JSON for unified storage and querying in MongoDB.

Key Features:

• Data Transformation: Maps VCF and OWL files into JSON objects while preserving variant annotations and ontology axioms.
• Rule-Based Algorithms: Applies rule-based mappings to automate and standardize the conversion of VCF and OWL content into JSON.
• Integration Framework: Stores and links transformed JSON objects within MongoDB to enable combined queries of genetic variants and ontological data.
• Scalability and Performance: Leverages MongoDB's NoSQL architecture to handle large-scale NGS-derived VCF datasets such as those from the 1000 Genomes Project.

Scientific Applications:

• Gene–disease association studies: Enables integration of variant datasets with biomedical ontologies to support investigation of gene–disease relationships.
• Phenotype–genotype correlation: Facilitates linking of variant annotations to ontology-defined phenotypes for correlation analyses.
• Clinical and population genomics: Supports analysis of large NGS-derived variant collections contextualized by OWL-based biomedical knowledge for personalized medicine and population studies.

Methodology:

Transforms VCF and OWL files into JSON via rule-based mappings and stores the integrated JSON objects in MongoDB.