Article
OARD: Open annotations for rare diseases and their phenotypes based on real-world data.
American journal of human genetics - 1 Sept 2022
Liu Cong, Ta Casey N, Havrilla Jim M, Nestor Jordan G, Spotnitz Matthew E, Geneslaw Andrew S, Hu Yu, Chung Wendy K, Wang Kai, Weng Chunhua
Abstract excerpt
Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare disease phenotypes in the underlying annotation knowledgebase. Existing knowledgebases are often manually curated with additional annotations found in published case reports. Despite their potential, real-world data such as electronic health records (EHRs) have not been fully...
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