The Sickle Cell Disease Ontology: Enabling universal sickle cell-based knowledge representation

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2019-11-01

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Abstract

© The Author(s) 2019. Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges in comprehensive disease management and collaborative research on this disease are compounded by the complex molecular and clinical phenotypes of SCD, environmental and psychosocial factors, limited therapeutic options and ambiguous terminology. This ambiguous terminology has hampered the integration and interoperability of existing SCD knowledge, and SCD research translation. The SCD Ontology (SCDO), which is a community-driven integrative and universal knowledge representation system for SCD, overcomes this issue by providing a controlled vocabulary developed by a group of experts in both SCD and ontology design. SCDO is the first and most comprehensive standardized humanand machine-readable resource that unambiguously represents terminology and concepts about SCD for researchers, patients and clinicians. It is built around the central concept 'hemoglobinopathy', allowing inclusion of non-SCD haemoglobinopathies, such as thalassaemias, which may interfere with or influence SCD phenotypic manifestations. This collaboratively developed ontology constitutes a comprehensive knowledge management system and standardized terminology of various SCD-related factors. The SCDO will promote interoperability of different research datasets, facilitate seamless data sharing and collaborations, including meta-analyses within the SCD community, and support the development and curation of data-basing and clinical informatics in SCD.

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10.1093/database/baz118

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Sickle Cell Disease Ontology Working Group (2019). The Sickle Cell Disease Ontology: Enabling universal sickle cell-based knowledge representation. Database, 2019. 10.1093/database/baz118 Retrieved from https://hdl.handle.net/10161/21575.

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Scholars@Duke

Royal

Charmaine DM Royal

Robert O. Keohane Professor of African & African American Studies

Charmaine Royal is the Robert O. Keohane Professor of African & African American Studies, Biology, Global Health, and Family Medicine & Community Health at Duke University. She directs the Duke Center on Genomics, Race, Identity, Difference and the Duke Center for Truth, Racial Healing & Transformation.

Dr. Royal’s research, scholarship, and teaching focus on ethical, social, scientific, and clinical implications of human genetics and genomics, with an emphasis on issues at the intersection of genetics and race. Her interests and primary areas of work include genetics and genomics in African and African Diaspora populations; sickle cell disease and trait; public and professional perspectives and practices regarding race, ethnicity, and ancestry; genetic ancestry inference; and genotype-environment interplay. A fundamental aim of her work is to dismantle ideologies and systems of racial hierarchy in science, healthcare, and society. She serves on numerous national and international advisory boards and committees for government agencies, professional organizations, research initiatives, not-for-profit entities, and corporations.

Dr. Royal obtained a bachelor’s degree in microbiology, master’s degree in genetic counseling, and doctorate in human genetics from Howard University. She completed postgraduate training in ethical, legal, and social implications (ELSI) research and bioethics at the National Human Genome Research Institute of the National Institutes of Health, and in epidemiology and behavioral medicine at Howard University Cancer Center.


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