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Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease

Nicola Mulder 1 Victoria Nembaware 1 Adekunle Adekile 2 Kofi A Anie 3 Baba Inusa 4 Biobele Brown 5 Andrew Campbell 6 Furahini Chinenere 7 Catherine Chunda-Liyoka 8, 9 Vimal K Derebail 10 Amy Geard 1 Kais Ghedira 11 Carol M Hamilton 12 Neil A Hanchard 13 Melissa Haendel 14 Wayne Huggins 12 Muntaser E Ibrahim 15 Simon Jupp 16 Karen Kengne Kamga 17 Jennifer Knight-Madden 18 Philomène Lopez-Sall 19 Mamana Mbiyavanga 1 Deogratias Munube 20 Damian Nirenberg 13 Obiageli Nnodu 21 Solomon Fiifi Ofori-Acquah 22 Kwaku Ohene-Frempong 23 Kenneth Babu Opap 1 Sumir Panji 1 Miriam Park 24 Gift Pule 1 Charmaine Royal 25 Raphael Sangeda 7 Bamidele Tayo 26 Marsha Treadwell 27 Léon Tshilolo 28 Ambroise Wonkam 1 
Abstract : Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions. Up to 75% of SCD in newborns world-wide occurs in sub-Saharan Africa, where neonatal and childhood mortality from sickle cell related complications is high. While SCD research across the globe is tackling the disease on multiple fronts, advances have yet to significantly impact on the health and quality of life of SCD patients, due to lack of coordination of these disparate efforts. Ensuring data across studies is directly comparable through standardization is a necessary step towards realizing this goal. Such a standardization requires the development and implementation of a disease-specific ontology for SCD that is applicable globally. Ontology development is best achieved by bringing together experts in the domain to contribute their knowledge. The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology.
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Submitted on : Friday, February 8, 2019 - 3:09:56 PM
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Proceedings of a Sickle Cell D...
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Nicola Mulder, Victoria Nembaware, Adekunle Adekile, Kofi A Anie, Baba Inusa, et al.. Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease. Applied & Translational Genomics, Elsevier, 2016, 9, pp.23-29. ⟨10.1016/j.atg.2016.03.005⟩. ⟨pasteur-02012176⟩



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