SEPIO: A semantic model for the integration and analysis of scientific evidence

The Scientific Evidence and Provenance Information Ontology (SEPIO) was developed to support the description of evidence and provenance information for scientific claims. The core model represents the relationships between claims, their lines of evidence, and the data items that comprise this evidence, as well as the methods, tools, and agents involved in the creation of these artifacts. SEPIO was initially developed to support the data integration and analysis efforts of the Monarch Initiative, where it provides a unified and computable representation of evidence and provenance metadata for genotype-phenotype associations aggregated across diverse model organism and clinical genetics databases. However, additional requirements were collected from diverse community partners in an effort to provide a shared community standard, with a core model that is domain independent and extensible to represent any type of claim and its associated evidence. In this report we describe the structure and principles behind the SEPIO model, and review its applications in support of data integration, curation, knowledge discovery, and manual and computational evaluation of scientific claims. The SEPIO ontology can be found at http://github.com/monarch-initiative/SEPIO-ontology/blob/master/src/ontology/sepio.owl.