Liu, C., Ta, C. N., Havrilla, J. M., Nestor, J. G., Spotnitz, M. E., Geneslaw, A. S., Hu, Y., Chung, W. K., Wang, K., & Weng, C. (2022). OARD: Open annotations for rare diseases and their phenotypes based on real-world data. The American Journal of Human Genetics, 109(9), 1591–1604. https://doi.org/10.1016/j.ajhg.2022.08.002
Subjects:
Standards and Guidelines for Genetic Variant Interpretation
(OpenAlex Topic)
Biomedical Ontologies and Text Mining
(OpenAlex Topic)
Analysis of Gene Interaction Networks
(OpenAlex Topic)
Natural Language Processing
(MeSH)
Rare Diseases
(MeSH)
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.08.002
PMID:
Journal:
Publication Date:
Data Source:
PubMed