The Human Reference Atlas (HRA, humanatlas.io) is a multiscale, multimodal, three-dimensional atlas of the anatomical structures and cells in the healthy human body. It provides standard terminologies and data structures for describing specimens, biological structures, and spatial positions linked to existing ontologies. The Human Phenotype Ontology (HPO, hpo.jax.org) is widely used in rare disease studies. It provides a standardized vocabulary for describing phenotypic abnormalities and supports computational analysis in research and clinical diagnostics. While HPO links to anatomy and cell types, it lacks the spatial and multiscale context provided by the Human Reference Atlas (HRA), which offers a 3D framework of anatomical structures, tissues, and cell types.
With Stiftung Charite funding, the HRA and HPO teams have linked phenotypic abnormalities to anatomical and cellular contexts via a merged HRA-HPO knowledge graph (KG). Data is deployed through the HRA Portal and an extended HRA Mirror at the Berlin Institutes of Health. Selected HRA visualization components are embedded in the HPO platform, allowing interactive exploration of 2D/3D anatomy and functional tissue units. This resource enables multiscale reasoning across phenotypic, anatomical, and cellular domains, revealing phenotype-anatomy relationships, highlighting coverage gaps, and supporting the development of a comprehensive Human Disease Atlas for precision health and precision medicine.
This hackathon introduces the new data and code to serve the needs of the wider biomedical community. PIs, programmers, and key personnel from the HPO and HRA communities will meet over two days to brainstorm and implement novel applications and user interfaces to this and other biomedical data.
