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Biomedical subjects

Mark A Musen

Publications and source records attributed to Mark A Musen.

At least 19 recordsLinked to original sources
PubMed2025

A general strategy for generating expert-guided, simplified views of ontologies.

Annotation of biomedical entities with widely used, well-structured ontologies and ontology-aware tools ensures data and analyses are Findable, Accessible, Interoperable, and Reusable (FAIR). Standardized terms with synonyms support lexical search, while ontology structure enables biologically meaningful grouping of annotations, such as by location and type. However, ontologies serving diverse communities are often more complex than needed for specific applications, creating barriers to adoption by researchers and resource developers. For example, cell atlases often attempt simplifications by manually building term hierarchies linking to cell type and anatomy ontologies, but these may include relationship types unsuitable for grouping annotations. We present tools for validating human expert curated term hierarchies, developed in two human reference atlas projects, against ontology structures. The tools provide tabular statistics plus graphical views of matching and non-matching terms and relationships to support discussion and conflict resolution. The HuBMAP Human Reference Atlas (HRA) effort is used to validate the approach and tools, and the Human Developmental Cell Atlas is featured as a use case.

Journal Article↗
PubMed2006

Using ontologies linked with geometric models to reason about penetrating injuries.

OBJECTIVE: Medical assessment of penetrating injuries is a difficult and knowledge-intensive task, and rapid determination of the extent of internal injuries is vital for triage and for determining the appropriate treatment. Physical examination and computed tomographic (CT) imaging data must be combined with detailed anatomic, physiologic, and biomechanical knowledge to assess the injured subject. We are developing a methodology to automate reasoning about penetrating injuries using canonical knowledge combined with specific subject image data. METHODS AND MATERIAL: In our approach, we build a three-dimensional geometric model of a subject from segmented images. We link regions in this model to entities in two knowledge sources: (1) a comprehensive ontology of anatomy containing organ identities, adjacencies, and other information useful for anatomic reasoning and (2) an ontology of regional perfusion containing formal definitions of arterial anatomy and corresponding regions of perfusion. We created computer reasoning services ("problem solvers") that use the ontologies to evaluate the geometric model of the subject and deduce the consequences of penetrating injuries. RESULTS: We developed and tested our methods using data from the Visible Human. Our problem solvers can determine the organs that are injured given particular trajectories of projectiles, whether vital structures--such as a coronary artery--are injured, and they can predict the propagation of injury ensuing after vital structures are injured. CONCLUSION: We have demonstrated the capability of using ontologies with medical images to support computer reasoning about injury based on those images. Our methodology demonstrates an approach to creating intelligent computer applications that reason with image data, and it may have value in helping practitioners in the assessment of penetrating injury.

Diagnosis, Computer-Assisted↗
PubMed2006

National Center for Biomedical Ontology: advancing biomedicine through structured organization of scientific knowledge.

The National Center for Biomedical Ontology is a consortium that comprises leading informaticians, biologists, clinicians, and ontologists, funded by the National Institutes of Health (NIH) Roadmap, to develop innovative technology and methods that allow scientists to record, manage, and disseminate biomedical information and knowledge in machine-processable form. The goals of the Center are (1) to help unify the divergent and isolated efforts in ontology development by promoting high quality open-source, standards-based tools to create, manage, and use ontologies, (2) to create new software tools so that scientists can use ontologies to annotate and analyze biomedical data, (3) to provide a national resource for the ongoing evaluation, integration, and evolution of biomedical ontologies and associated tools and theories in the context of driving biomedical projects (DBPs), and (4) to disseminate the tools and resources of the Center and to identify, evaluate, and communicate best practices of ontology development to the biomedical community. Through the research activities within the Center, collaborations with the DBPs, and interactions with the biomedical community, our goal is to help scientists to work more effectively in the e-science paradigm, enhancing experiment design, experiment execution, data analysis, information synthesis, hypothesis generation and testing, and understand human disease.

Biomedical Research↗
PubMed2005

Using an ontology of human anatomy to inform reasoning with geometric models.

The Virtual Soldier project is a large effort on the part of the U.S. Defense Advanced Research Projects agency to explore using both general anatomical knowledge and specific computed tomographic (CT) images of individual soldiers to aid the rapid diagnosis and treatment of penetrating injuries. Our goal is to develop intelligent computer applications that use this knowledge to reason about the anatomic structures that are directly injured and to predict propagation of injuries secondary to primary organ damage. To accomplish this, we needed to develop an architecture to combine geometric data with anatomic knowledge and reasoning services that use this information to predict the consequences of injuries.

Computer Simulation↗
PubMed2005

Challenges in converting frame-based ontology into OWL: the Foundational Model of Anatomy case-study.

A description logics representation of the Foundational Model of Anatomy (FMA) in the Web Ontology Language (OWL-DL) would allow developers to combine it with other OWL ontologies, and would provide the benefit of being able to access generic reasoning tools. However, the FMA is currently represented in a frame language. The differences between description logics and frames are not only syntactic, but also semantic. We analyze some theoretical and computational limitations of converting the FMA into OWL-DL. Namely, some of the constructs used in the FMA do not have a direct equivalent in description logics, and a complete conversion of the FMA in description logics is too large to support reasoning. Therefore, an OWL-DL representation of the FMA would have to be optimized for each application. We propose a solution based on OWL-Full, a superlanguage of OWL-DL, that meets the expressiveness requirements and remains application-independent. Specific simplified OWL-DL representations can then be generated from the OWL-Full model by applications. We argue that this solution is easier to implement and closer to the application needs than an integral translation, and that the latter approach would only make the FMA maintenance more difficult.

Anatomy↗
PubMed2005

Use of description logic classification to reason about consequences of penetrating injuries.

The consequences of penetrating injuries can be complex, including abnormal blood flow through the injury channel and functional impairment of organs if arteries supplying them have been severed. Determining the consequences of such injuries can be posed as a classification problem, requiring a priori symbolic knowledge of anatomy. We hypothesize that such symbolic knowledge can be modeled using ontologies, and that the reasoning task can be accomplished using knowl-edge representation in description logics (DL) and automatic classification. We demonstrate the capabilities of automated classification using the Web Ontology Language (OWL) to reason about the consequences of penetrating injuries. We created in OWL a knowledge model of chest and heart anatomy describing the heart structure and the surrounding anatomic compartments, as well as the perfusion of regions of the heart by branches of the coronary arteries. We then used a domain-independent classifier to infer ischemic regions of the heart as well as anatomic spaces containing ectopic blood secondary to the injuries. Our results highlight the advantages of posing reasoning problems as a classification task, and lever-aging the automatic classification capabilities of DL to create intelligent applications.

Anatomy↗
PubMed2004

Translating research into practice: organizational issues in implementing automated decision support for hypertension in three medical centers.

Information technology can support the implementation of clinical research findings in practice settings. Technology can address the quality gap in health care by providing automated decision support to clinicians that integrates guideline knowledge with electronic patient data to present real-time, patient-specific recommendations. However, technical success in implementing decision support systems may not translate directly into system use by clinicians. Successful technology integration into clinical work settings requires explicit attention to the organizational context. We describe the application of a "sociotechnical" approach to integration of ATHENA DSS, a decision support system for the treatment of hypertension, into geographically dispersed primary care clinics. We applied an iterative technical design in response to organizational input and obtained ongoing endorsements of the project by the organization's administrative and clinical leadership. Conscious attention to organizational context at the time of development, deployment, and maintenance of the system was associated with extensive clinician use of the system.

Academic Medical Centers↗
PubMed2004

Modeling guidelines for integration into clinical workflow.

The success of clinical decision-support systems requires that they are seamlessly integrated into clinical workflow. In the SAGE project, which aims to create the technological infra-structure for implementing computable clinical practice guide-lines in enterprise settings, we created a deployment-driven methodology for developing guideline knowledge bases. It involves (1) identification of usage scenarios of guideline-based care in clinical workflow, (2) distillation and disambiguation of guideline knowledge relevant to these usage scenarios, (3) formalization of data elements and vocabulary used in the guideline, and (4) encoding of usage scenarios and guideline knowledge using an executable guideline model. This methodology makes explicit the points in the care process where guideline-based decision aids are appropriate and the roles of clinicians for whom the guideline-based assistance is intended. We have evaluated the methodology by simulating the deployment of an immunization guideline in a real clinical information system and by reconstructing the workflow context of a deployed decision-support system for guideline-based care. We discuss the implication of deployment-driven guideline encoding for sharability of executable guidelines.

Decision Making, Computer-Assisted↗
PubMed2004

An intelligent case-adjustment algorithm for the automated design of population-based quality auditing protocols.

We develop a method and algorithm for deciding the optimal approach to creating quality-auditing protocols for guideline-based clinical performance measures. An important element of the audit protocol design problem is deciding which guide-line elements to audit. Specifically, the problem is how and when to aggregate individual patient case-specific guideline elements into population-based quality measures. The key statistical issue involved is the trade-off between increased reliability with more general population-based quality measures versus increased validity from individually case-adjusted but more restricted measures done at a greater audit cost. Our intelligent algorithm for auditing protocol design is based on hierarchically modeling incrementally case-adjusted quality constraints. We select quality constraints to measure using an optimization criterion based on statistical generalizability coefficients. We present results of the approach from a deployed decision support system for a hypertension guideline.

Algorithms↗
PubMed2004

The SAGE guideline modeling: motivation and methodology.

The SAGE (Standards-Based Sharable Active Guideline Environment) project is a collaboration among research groups at six institutions in the US. The ultimate goal of the project is to create an infrastructure that will allow execution of standards-based clinical practice guidelines across heterogeneous clinical information systems. This paper describes the design goals of the SAGE guideline model in the context of the technological infrastructure and guideline modeling methodology that the project is developing.

Decision Support Systems, Clinical↗
PubMed2003

Developing quality indicators and auditing protocols from formal guideline models: knowledge representation and transformations.

Automated quality assessment of clinician actions and patient outcomes is a central problem in guideline- or standards-based medical care. In this paper we describe a model representation and algorithm for deriving structured quality indicators and auditing protocols from formalized specifications of guidelines used in decision support systems. We apply the model and algorithm to the assessment of physician concordance with a guideline knowledge model for hypertension used in a decision-support system. The properties of our solution include the ability to derive automatically context-specific and case-mix-adjusted quality indicators that can model global or local levels of detail about the guideline parameterized by defining the reliability of each indicator or element of the guideline.

Algorithms↗
PubMed2003

An analytic framework fo space-time aberrancy detection in public health surveillance data.

Public health surveillance is changing in response to concerns about bioterrorism, which have increased the pressure for early detection of epidemics. Rapid detection necessitates following multiple non-specific indicators and accounting for spatial structure. No single analytic method can meet all of these requirements for all data sources and all surveillance goals. Analytic methods must be selected and configured to meet a surveillance goal, but there are no uniform criteria to guide the selection and configuration process. In this paper, we describe work towards the development of an analytic framework for space-time aberrancy detection in public health surveillance data. The framework decomposes surveillance analysis into sub-tasks and identifies knowledge that can facilitate selection of methods to accomplish sub-tasks.

Bioterrorism↗
PubMed2003

Contextualizing heterogeneous data for integration and inference.

Systems that attempt to integrate and analyze data from multiple data sources are greatly aided by the addition of specific semantic and metadata "context" that explicitly describes what a data value means. In this paper, we describe a systematic approach to constructing models of data and their context. Our approach provides a generic "template" for constructing such models. For each data source, a developer creates a customized model by filling in the tem-plate with predefined attributes and value. This approach facilitates model construction and provides consistent syntax and semantics among models created with the template. Systems that can process the template structure and attribute values can reason about any model so described. We used the template to create a detailed knowledge base for syndromic surveillance data integration and analysis. The knowledge base provided support for data integration, translation, and analysis methods.

Database Management Systems↗
PubMed2003

The structure of guideline recommendations: a synthesis.

We propose that recommendations in a clinical guideline can be structured either as collections of decisions that are to be applied in specific situations or as processes that specify activities that take place over time. We formalize them as "recommendation sets" consisting of either Activity Graphs that represent guideline-directed processes or Decision Maps that represent atemporal recommendations or recommendations involving decisions made at one time point. We model guideline processes as specializations of workflow processes and provide possible computational models for decision maps. We evaluate the proposed formalism by showing how various guideline-modeling methodologies, including GLIF, EON, PRODIGY3, and Medical Logic Modules can be mapped into the proposed structures. The generality of the formalism makes it a candidate for standardizing the structure of recommendations for computer-interpretable guidelines.

Decision Making, Computer-Assisted↗
PubMed2003

Protégé-2000: an open-source ontology-development and knowledge-acquisition environment.

Protégé-2000 is an open-source tool that assists users in the construction of large electronic knowledge bases. It has an intuitive user interface that enables developers to create and edit domain ontologies. Numerous plugins provide alternative visualization mechanisms, enable management of multiple ontologies, allow the use of interference engines and problem solvers with Protégé ontologies, and provide other functionality. The Protégé user community has more than 7000 members.

Database Management Systems↗
PubMed2003

A knowledge-acquisition wizard to encode guidelines.

An important step in building guideline-based clinical care systems is encoding guidelines. Protégé-2000, developed in our laboratory, is a general-purpose knowledge-acquisition tool that facilitates domain experts and developers to record, browse and maintain domain knowledge in knowledge bases. In this poster we illustrate a knowledge-acquisition wizard that we built around Protégé-2000. The wizard provides an environment that is more intuitive to domain specialists to enter knowledge, and domain specialists and practitioners to review the knowledge entered.

Artificial Intelligence↗
PubMed2003

BioSTORM: a system for automated surveillance of diverse data sources.

Heightened concerns about bioterrorism are forcing changes to the traditional biosurveillance-model. Public health departments are under pressure to follow multiple, non-specific, pre-diagnostic indicators, often drawn from many data sources. As a result, there is a need for biosurveillance systems that can use a variety of analysis techniques to rapidly integrate and process multiple diverse data feeds using a variety of problem solving techniques to give timely analysis. To meet these requirements, we are developing a new system called BioSTORM (Biological Spatio-Temporal Outbreak Reasoning Module).

Bioterrorism↗