Introduction

The Human Phenotype Ontology (HPO) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. Biomedical ontologies act as a “Rosetta stone” for medical terminology, providing interoperability across resources and enabling sophisticated computational analysis.

The HPO is a rich representation of the diversity of human phenotypes and, due to its logical structure, it enables computational inference of combined genomic and phenotypic analysis in basic research and the clinic. Examples include genomic interpretation for diagnostics, gene-disease discovery, genotype-phenotype analysis, mechanism discovery, and EHR cohort analytics—all of which assist in realizing the promises of precision medicine. Since 2008, the HPO team has developed free and open community resources consisting of the HPO itself and a comprehensive corpus of phenotype annotations (HPOA) for more than 8,500 rare diseases. The HPO team also developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is the global standard in rare disease research and diagnostics, evidenced by the fact that it is used to support clinical care and translational research in rare diseases in myriad academic and commercial software packages, is a Global Alliance for Genomics and Health (GA4GH) resource, and has been translated into 10 languages with 6 in progress.

This workshop intends to provide a general introduction to HPO and some computational tools that leverage HPO.

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