Positioning Genomic Features in Biomedical Knowledge Graphs using the Homo sapiens Chromosomal Location Ontology for GRCh38 (HSCLO38)

Abstract

The Homo sapiens Chromosomal Location Ontology for GRCh38 (HSCLO38) represents a knowledge-graph-ready framework for connecting genomic features at multiple resolutions. We present the methodology behind the development of HSCLO38 and its integration with current genomic standards for application in biomedical research. We explore the performance and scalability of HSCLO38 in specific use cases in handling large-scale genomic data in a biomedical knowledge graph.