arXiv subjects

Mark A. Musen

Publications and source records attributed to Mark A. Musen.

26 records · Page 2Linked to original sources

arXiv2019

Using association rule mining and ontologies to generate metadata recommendations from multiple biomedical databases

Metadata-the machine-readable descriptions of the data-are increasingly seen as crucial for describing the vast array of biomedical datasets that are currently being deposited in public repositories. While most public repositories have firm requirements that metadata must accompany submitted datasets, the quality of those metadata is generally very poor. A key problem is that the typical metadata acquisition process is onerous and time consuming, with little interactive guidance or assistance provided to users. Secondary problems include the lack of validation and sparse use of standardized terms or ontologies when authoring metadata. There is a pressing need for improvements to the metadata acquisition process that will help users to enter metadata quickly and accurately. In this paper we outline a recommendation system for metadata that aims to address this challenge. Our approach uses association rule mining to uncover hidden associations among metadata values and to represent them in the form of association rules. These rules are then used to present users with real-time recommendations when authoring metadata. The novelties of our method are that it is able to combine analyses of metadata from multiple repositories when generating recommendations and can enhance those recommendations by aligning them with ontology terms. We implemented our approach as a service integrated into the CEDAR Workbench metadata authoring platform, and evaluated it using metadata from two public biomedical repositories: US-based National Center for Biotechnology Information (NCBI) BioSample and European Bioinformatics Institute (EBI) BioSamples. The results show that our approach is able to use analyses of previous entered metadata coupled with ontology-based mappings to present users with accurate recommendations when authoring metadata.

cs.DB↗

arXiv2019

HopRank: How Semantic Structure Influences Teleportation in PageRank (A Case Study on BioPortal)

This paper introduces HopRank, an algorithm for modeling human navigation on semantic networks. HopRank leverages the assumption that users know or can see the whole structure of the network. Therefore, besides following links, they also follow nodes at certain distances (i.e., k-hop neighborhoods), and not at random as suggested by PageRank, which assumes only links are known or visible. We observe such preference towards k-hop neighborhoods on BioPortal, one of the leading repositories of biomedical ontologies on the Web. In general, users navigate within the vicinity of a concept. But they also "jump" to distant concepts less frequently. We fit our model on 11 ontologies using the transition matrix of clickstreams, and show that semantic structure can influence teleportation in PageRank. This suggests that users--to some extent--utilize knowledge about the underlying structure of ontologies, and leverage it to reach certain pieces of information. Our results help the development and improvement of user interfaces for ontology exploration.

cs.SI↗

arXiv2019

WebProtégé: A Cloud-Based Ontology Editor

We present WebProtégé, a tool to develop ontologies represented in the Web Ontology Language (OWL). WebProtégé is a cloud-based application that allows users to collaboratively edit OWL ontologies, and it is available for use at https://webprotege.stanford.edu. WebProtégeé currently hosts more than 68,000 OWL ontology projects and has over 50,000 user accounts. In this paper, we detail the main new features of the latest version of WebProtégé.

cs.IR↗

arXiv2019

The variable quality of metadata about biological samples used in biomedical experiments

We present an analytical study of the quality of metadata about samples used in biomedical experiments. The metadata under analysis are stored in two well-known databases: BioSample---a repository managed by the National Center for Biotechnology Information (NCBI), and BioSamples---a repository managed by the European Bioinformatics Institute (EBI). We tested whether 11.4M sample metadata records in the two repositories are populated with values that fulfill the stated requirements for such values. Our study revealed multiple anomalies in the metadata. Most metadata field names and their values are not standardized or controlled. Even simple binary or numeric fields are often populated with inadequate values of different data types. By clustering metadata field names, we discovered there are often many distinct ways to represent the same aspect of a sample. Overall, the metadata we analyzed reveal that there is a lack of principled mechanisms to enforce and validate metadata requirements. The significant aberrancies that we found in the metadata are likely to impede search and secondary use of the associated datasets.

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arXiv2017

Metadata in the BioSample Online Repository are Impaired by Numerous Anomalies

The metadata about scientific experiments are crucial for finding, reproducing, and reusing the data that the metadata describe. We present a study of the quality of the metadata stored in BioSample--a repository of metadata about samples used in biomedical experiments managed by the U.S. National Center for Biomedical Technology Information (NCBI). We tested whether 6.6 million BioSample metadata records are populated with values that fulfill the stated requirements for such values. Our study revealed multiple anomalies in the analyzed metadata. The BioSample metadata field names and their values are not standardized or controlled--15% of the metadata fields use field names not specified in the BioSample data dictionary. Only 9 out of 452 BioSample-specified fields ordinarily require ontology terms as values, and the quality of these controlled fields is better than that of uncontrolled ones, as even simple binary or numeric fields are often populated with inadequate values of different data types (e.g., only 27% of Boolean values are valid). Overall, the metadata in BioSample reveal that there is a lack of principled mechanisms to enforce and validate metadata requirements. The aberrancies in the metadata are likely to impede search and secondary use of the associated datasets.

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arXiv2017

NCBO Ontology Recommender 2.0: An Enhanced Approach for Biomedical Ontology Recommendation

Biomedical researchers use ontologies to annotate their data with ontology terms, enabling better data integration and interoperability. However, the number, variety and complexity of current biomedical ontologies make it cumbersome for researchers to determine which ones to reuse for their specific needs. To overcome this problem, in 2010 the National Center for Biomedical Ontology (NCBO) released the Ontology Recommender, which is a service that receives a biomedical text corpus or a list of keywords and suggests ontologies appropriate for referencing the indicated terms. We developed a new version of the NCBO Ontology Recommender. Called Ontology Recommender 2.0, it uses a new recommendation approach that evaluates the relevance of an ontology to biomedical text data according to four criteria: (1) the extent to which the ontology covers the input data; (2) the acceptance of the ontology in the biomedical community; (3) the level of detail of the ontology classes that cover the input data; and (4) the specialization of the ontology to the domain of the input data. Our evaluation shows that the enhanced recommender provides higher quality suggestions than the original approach, providing better coverage of the input data, more detailed information about their concepts, increased specialization for the domain of the input data, and greater acceptance and use in the community. In addition, it provides users with more explanatory information, along with suggestions of not only individual ontologies but also groups of ontologies. It also can be customized to fit the needs of different scenarios. Ontology Recommender 2.0 combines the strengths of its predecessor with a range of adjustments and new features that improve its reliability and usefulness. Ontology Recommender 2.0 recommends over 500 biomedical ontologies from the NCBO BioPortal platform, where it is openly available.

cs.AI↗

arXiv2016

Discovering Beaten Paths in Collaborative Ontology-Engineering Projects using Markov Chains

Biomedical taxonomies, thesauri and ontologies in the form of the International Classification of Diseases (ICD) as a taxonomy or the National Cancer Institute Thesaurus as an OWL-based ontology, play a critical role in acquiring, representing and processing information about human health. With increasing adoption and relevance, biomedical ontologies have also significantly increased in size. For example, the 11th revision of the ICD, which is currently under active development by the WHO contains nearly 50,000 classes representing a vast variety of different diseases and causes of death. This evolution in terms of size was accompanied by an evolution in the way ontologies are engineered. Because no single individual has the expertise to develop such large-scale ontologies, ontology-engineering projects have evolved from small-scale efforts involving just a few domain experts to large-scale projects that require effective collaboration between dozens or even hundreds of experts, practitioners and other stakeholders. Understanding how these stakeholders collaborate will enable us to improve editing environments that support such collaborations. We uncover how large ontology-engineering projects, such as the ICD in its 11th revision, unfold by analyzing usage logs of five different biomedical ontology-engineering projects of varying sizes and scopes using Markov chains. We discover intriguing interaction patterns (e.g., which properties users subsequently change) that suggest that large collaborative ontology-engineering projects are governed by a few general principles that determine and drive development. From our analysis, we identify commonalities and differences between different projects that have implications for project managers, ontology editors, developers and contributors working on collaborative ontology-engineering projects and tools in the biomedical domain.

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arXiv2013

Graph-Grammar Assistance for Automated Generation of Influence Diagrams

One of the most difficult aspects of modeling complex dilemmas in decision-analytic terms is composing a diagram of relevance relations from a set of domain concepts. Decision models in domains such as medicine, however, exhibit certain prototypical patterns that can guide the modeling process. Medical concepts can be classified according to semantic types that have characteristic positions and typical roles in an influence-diagram model. We have developed a graph-grammar production system that uses such inherent interrelationships among medical terms to facilitate the modeling of medical decisions.

cs.AI↗