TY - JOUR
T1 - The Sickle Cell Disease Ontology
T2 - Enabling universal sickle cell-based knowledge representation
AU - Sickle Cell Disease Ontology Working Group
AU - Adekile, Adekunle
AU - Anie, Kofi A.
AU - Hamda, Cherif Ben
AU - Brown, Biobele
AU - Bukini, Daima
AU - Campbell, Andrew
AU - Chaouch, Melek
AU - Chimusa, Emile
AU - Chunda-Liyoka, Catherine
AU - Jemima Dennis- Antwi, Dennis- Antwi
AU - Derebail, Vimal K.
AU - Flor-Park, Miriam
AU - Geard, Amy
AU - Ghedira, Kais
AU - Haendel, Melissa
AU - Hanchard, Neil A.
AU - Hotchkiss, Jade
AU - Jonas, Mario
AU - Ibrahim, Muntaser
AU - Ingram, Clair
AU - Inusa, Baba
AU - Jimoh, Adijat Ozohu
AU - Jupp, Simon
AU - Kamga, Karen
AU - Kashim, Zainab Abimbola
AU - Knight-Madden, Jennifer
AU - Landouré, Guida
AU - Lopez-Sall, Philomene
AU - Makani, Julie
AU - Malasa, Leonard
AU - Masekoameng, Tshepiso
AU - Mazandu, Gaston
AU - Mnika, Khuthala
AU - Mulder, Nicola
AU - Munung, Nchangwi Syntia
AU - Munube, Deogratias
AU - Mwita, Liberata
AU - Nembaware, Victoria
AU - Nnodu, Obiageli
AU - Ofori-Acquah, Solomon
AU - Ohene-Frempong, Kwaku
AU - Osei-Akoto, Alex
AU - Paintsil, Vivian
AU - Panji, Sumir
AU - Rahimy, Mohamed Cherif
AU - Royal, Charmaine
AU - Sangeda, Raphael Z.
AU - Tayo, Bamidele
AU - Tiouiri, Ines
AU - Vasilevsky, Nicole
N1 - Publisher Copyright:
© The Author(s) 2019.
PY - 2019/11
Y1 - 2019/11
N2 - 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.
AB - 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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U2 - 10.1093/database/baz118
DO - 10.1093/database/baz118
M3 - Article
AN - SCOPUS:85079030711
SN - 1758-0463
VL - 2019
JO - Database
JF - Database
M1 - baz118
ER -