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Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery
2019
Zenodo
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 realize the goals of precision medicine. Diagnosis of rare diseases by computational cross-species
doi:10.5281/zenodo.3234097
fatcat:kvhyw3o4l5epxkanw4fzpxlnkm