Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs.
Journal:
Scientific data
PMID:
39799122
Abstract
The Homo sapiens Chromosomal Location Ontology (HSCLO) is designed to facilitate the integration of human genomic features into biomedical knowledge graphs from releases GRCh37 and GRCh38 at multiple resolutions. HSCLO comprises two distinct versions, HSCLO37 and HSCLO38, each tailored to its respective human genome release. This ontology supports the efficient integration and analysis of human genomic data across scales ranging from entire chromosomes to individual base pairs, thereby enhancing data retrieval and interoperability within large-scale biomedical datasets. Unlike existing ontologies that primarily focus on genomic feature identification or annotation, HSCLO is specifically engineered to optimize the interoperability and scalability of genomic data within biomedical knowledge graphs. The utility and performance of HSCLO are demonstrated through a case study involving the integration of high-resolution chromatin interaction data, which reveals significant improvements in query efficiency and data linkage. HSCLO represents a valuable resource for advancing research in disease genetics, personalized medicine, and other domains that require complex genomic data integration.