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Liu et al., 2022 - Google Patents

OARD: Open annotations for rare diseases and their phenotypes based on real-world data

Liu et al., 2022

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Document ID
7041909864116877198
Author
Liu C
Ta C
Havrilla J
Nestor J
Spotnitz M
Geneslaw A
Hu Y
Chung W
Wang K
Weng C
Publication year
Publication venue
The American Journal of Human Genetics

External Links

Snippet

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 …
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