Article
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.
Database : the journal of biological databases and curation - 1 Jan 2019
Gourdine Jean-Philippe F, Brush Matthew H, Vasilevsky Nicole A, Shefchek Kent, Köhler Sebastian, Matentzoglu Nicolas, Munoz-Torres Monica C, McMurry Julie A, Zhang Xingmin Aaron, Robinson Peter N, Haendel Melissa A
Abstract excerpt
While abnormalities related to carbohydrates (glycans) are frequent for patients with rare and undiagnosed diseases as well as in many common diseases, these glycan-related phenotypes (glycophenotypes) are not well represented in knowledge bases (KBs). If glycan-related diseases were more robustly represented and curated with glycophenotypes, these could be used for molecular phenotyping to help to realize the...
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