Symbolic modeling of structural relationships in the Foundational Model of Anatomy

The need for a sharable resource that can provide deep anatomical knowledge and support inference for biomedical applications has recently been the driving force in the creation of biomedical ontologies. Previous attempts at the symbolic representation of anatomical relationships necessary for such ontologies have been largely limited to general partonomy and class subsumption. We propose an ontology of anatomical relationships beyond class assignments and generic part-whole relations and illustrate the inheritance of structural attributes in the Digital Anatomist Foundational Model of Anatomy. Our purpose is to generate a symbolic model that accommodates all structural relationships and physical properties required to comprehensively and explicitly describe the physical organization of the human body

Representing Complexity in Part-Whole Relationships within the Foundational Model of Anatomy

The Foundational Model of Anatomy (FMA) is a frame-based ontology that represents declarative knowledge about the structural organization of the human body. Part-whole relationships play a particularly important role in this representation. In order to assure that knowledge-based applications relying on the FMA as a resource can reason about anatomy, we have modified and enhanced currently available schemes of meronymic relationships. We have introduced and defined distinct partitions for decomposing anatomical structures and attributed the part relationships in order to eliminate ambiguity and enhance specificity in the richness of meronymic relationships within the FMA

The Role of Definitions in Biomedical Concept Representation

The Foundational Model (FM) of anatomy, developed as an anatomical enhancement of UMLS, classifies anatomical entities in a structural context. Explicit definitions have played a critical role in the establishment of FM classes. Essential structural properties that distinguish a group of anatomical entities serve as the differentiae for defining classes. These, as well as other structural attributes, are introduced as template slots in Protege, a frame-based knowledge acquisition system, and are inherited by descendants of the class. A set of desiderata has evolved during the instantiation of the FM for formulating definitions. We contend that 1. these desiderata generalize to non-anatomical domains and 2. satisfying them in constituent vocabularies of UMLS would enhance the quality of information retrievable through UMLS

Anatomical information science

The Foundational Model of Anatomy (FMA) is a map of the human body. Like maps of other sorts – including the map-like representations we find in familiar anatomical atlases – it is a representation of a certain portion of spatial reality as it exists at a certain (idealized) instant of time. But unlike other maps, the FMA comes in the form of a sophisticated ontology of its objectdomain, comprising some 1.5 million statements of anatomical relations among some 70,000 anatomical kinds. It is further distinguished from other maps in that it represents not some specific portion of spatial reality (say: Leeds in 1996), but rather the generalized or idealized spatial reality associated with a generalized or idealized human being at some generalized or idealized instant of time. It will be our concern in what follows to outline the approach to ontology that is represented by the FMA and to argue that it can serve as the basis for a new type of anatomical information science. We also draw some implications for our understanding of spatial reasoning and spatial ontologies in general

Evolution of a Foundational Model of Physiology: Symbolic Representation for Functional Bioinformatics

We describe the need for a Foundational Model of Physiology (FMP) as a reference ontology for functional bioinformatics . The FMP is intended to support symbolic lookup, logical inference and mathematical analysis by integrating descriptive, qualitative and quantitative functional knowledge. The FMP will serve as a symbolic representation of biological functions initially pertaining to human physiology and ultimately extensible to other species. We describe the evolving architecture of the FMP, which is based on the ontological principles of the BioD biological description language and the Foundational Model of Anatomy (FMA)

The Foundational Model of Anatomy Ontology

Anatomy is the structure of biological organisms. The term also denotes the scientific discipline devoted to the study of anatomical entities and the structural and developmental relations that obtain among these entities during the lifespan of an organism. Anatomical entities are the independent continuants of biomedical reality on which physiological and disease processes depend, and which, in response to etiological agents, can transform themselves into pathological entities. For these reasons, hard copy and in silico information resources in virtually all fields of biology and medicine, as a rule, make extensive reference to anatomical entities. Because of the lack of a generalizable, computable representation of anatomy, developers of computable terminologies and ontologies in clinical medicine and biomedical research represented anatomy from their own more or less divergent viewpoints. The resulting heterogeneity presents a formidable impediment to correlating human anatomy not only across computational resources but also with the anatomy of model organisms used in biomedical experimentation. The Foundational Model of Anatomy (FMA) is being developed to fill the need for a generalizable anatomy ontology, which can be used and adapted by any computer-based application that requires anatomical information. Moreover it is evolving into a standard reference for divergent views of anatomy and a template for representing the anatomy of animals. A distinction is made between the FMA ontology as a theory of anatomy and the implementation of this theory as the FMA artifact. In either sense of the term, the FMA is a spatial-structural ontology of the entities and relations which together form the phenotypic structure of the human organism at all biologically salient levels of granularity. Making use of explicit ontological principles and sound methods, it is designed to be understandable by human beings and navigable by computers. The FMA’s ontological structure provides for machine-based inference, enabling powerful computational tools of the future to reason with biomedical data

Design of an Anatomy Information System

Biology and medicine rely fundamentally on anatomy. Not only do you need anatomical knowledge to understand normal and abnormal function, anatomy also provides a framework for organizing other kinds of biomedical data. That’s why medical and other health sciences students take anatomy as one of their first courses. The Digital Anatomist Project undertaken by members of the University of Washington Structural Informatics Group aims to “put anatomy on a computer” in such a way that anatomical information becomes as fundamental to biomedical information management as the study of anatomy is to medical students. To do this we need to develop methods for representing anatomical information, accessing it, and reusing it in multiple applications ranging from education to clinical practice. This development process engenders many of the core research areas in biological structural informatics, which we have defined as a subfield of medical informatics dealing with information about the physical organization of the body. By its nature, structural information proves highly amenable to representation and visualization by computer graphics methods. In fact, computer graphics offers the first real breakthrough in anatomical knowledge representation since publication of the first scholarly anatomical treatise in 1546, in that it provides a means for capturing the 3D dynamic nature of the human body. In this article we explain the nature of anatomical information and discuss the design of a system to organize and access it. Example applications show the potential for reusing the same information in contexts ranging from education to clinical medicine, as well as the role of graphics in visualizing and interacting with anatomical representations

Integrating Genomic Knowledge Sources through an Anatomy Ontology

Modern genomic research has access to a plethora of knowledge sources. Often, it is imperative that researchers combine and integrate knowledge from multiple perspectives. Although some technology exists for connecting data and knowledge bases, these methods are only just begin-ning to be successfully applied to research in modern cell biology. In this paper, we argue that one way to integrate multiple knowledge sources is through anatomy—both generic cellular anatomy, as well as anatomic knowledge about the tissues and organs that may be studied via microarray gene expression experiments. We present two examples where we have combined a large ontology of human anatomy (the FMA) with other genomic knowledge sources: the gene ontology (GO) and the mouse genomic databases (MGD) of the Jackson Labs. These two initial examples of knowledge integration provide a proof of concept that anatomy can act as a hub through which we can usefully combine a variety of genomic knowledge and data

The Role of Foundational Relations in the Alignment of Biomedical Ontologies

The Foundational Model of Anatomy (FMA) symbolically represents the structural organization of the human body from the macromolecular to the macroscopic levels, with the goal of providing a robust and consistent scheme for classifying anatomical entities on the basis of explicit definitions. This scheme also provides a template for modeling pathology, physiological function and genotype-phenotype correlations, and it can thus serve as a reference ontology in biomedical informatics. Here we articulate the need for formally clarifying the is-a and partof relations in the FMA and similar ontology and terminology systems. We diagnose certain characteristic errors in the treatment of these relations and show how these errors can be avoided through adoption of the formalism we describe. We then illustrate how a consistently applied formal treatment of taxonomy and partonomy can support the alignment of ontologies