Within clinical, biomedical, and translational science, an increasing number of projects are adopting graphs for knowledge representation. Graph‐based data models elucidate the interconnectedness among core biomedical concepts, enable data structures to be easily updated, and support intuitive queries, visualizations, and inference algorithms. However, knowledge discovery across these “knowledge graphs” (KGs) has remained difficult. Data set heterogeneity and complexity; the proliferation of ad hoc data formats; poor compliance with guidelines on findability, accessibility, interoperability, and reusability; and, in particular, the lack of a universally accepted, open‐access model for standardization across biomedical KGs has left the task of reconciling data sources to downstream consumers. Biolink Model is an open‐source data model that can be used to formalize the relationships between data structures in translational science. It incorporates object‐oriented classification and graph‐oriented features. The core of the model is a set of hierarchical, interconnected classes (or categories) and relationships between them (or predicates) representing biomedical entities such as gene, disease, chemical, anatomic structure, and phenotype. The model provides class and edge attributes and associations that guide how entities should relate to one another. Here, we highlight the need for a standardized data model for KGs, describe Biolink Model, and compare it with other models. We demonstrate the utility of Biolink Model in various initiatives, including the Biomedical Data Translator Consortium and the Monarch Initiative, and show how it has supported easier integration and interoperability of biomedical KGs, bringing together knowledge from multiple sources and helping to realize the goals of translational science.
Clinical, biomedical, and translational science has reached an inflection point in the breadth and diversity of available data and the potential impact of such data to improve human health and well‐being. However, the data are often siloed, disorganized, and not broadly accessible due to discipline‐specific differences in terminology and representation. To address these challenges, the Biomedical Data Translator Consortium has developed and tested a pilot knowledge graph‐based “Translator” system capable of integrating existing biomedical data sets and “translating” those data into insights intended to augment human reasoning and accelerate translational science. Having demonstrated feasibility of the Translator system, the Translator program has since moved into development, and the Translator Consortium has made significant progress in the research, design, and implementation of an operational system. Herein, we describe the current system’s architecture, performance, and quality of results. We apply Translator to several real‐world use cases developed in collaboration with subject‐matter experts. Finally, we discuss the scientific and technical features of Translator and compare those features to other state‐of‐the‐art, biomedical graph‐based question‐answering systems.
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We present a scoping review of user studies in explainable artificial intelligence (XAI) entailing qualitative investigation. We draw on social science corpora to suggest ways for improving the rigor of studies where XAI researchers use observations, interviews, focus groups, and/or questionnaire tasks to collect qualitative data. We contextualize the presentation of the XAI papers included in our review according to the components of rigor discussed in the qualitative research literature: (a) underlying theories or frameworks; (b) methodological approaches; (c) data collection methods; and (d) data analysis processes. The results of our review dovetail with calls made by others in the XAI community advocating for collaboration with experts from social disciplines toward bolstering rigor and effectiveness in user studies.
We present a focused analysis of user studies in explainable artificial intelligence (XAI) entailing qualitative investigation. We draw on social science corpora to suggest ways for improving the rigor of studies where XAI researchers use observations, interviews, focus groups, and/or questionnaires to capture qualitative data. We contextualize the presentation of the XAI papers included in our analysis according to the components of rigor described in the qualitative research literature: 1) underlying theories or frameworks, 2) methodological approaches, 3) data collection methods, and 4) data analysis processes. The results of our analysis support calls from others in the XAI community advocating for collaboration with experts from social disciplines to bolster rigor and effectiveness in user studies.
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