How many rare diseases are there?-Reference-Cited by-同舟云学术

How many rare diseases are there?

Published:2019-11-05 Issue:2 Volume:19 Page:77-78
ISSN:1474-1776
Container-title:Nature Reviews Drug Discovery
language:en
Short-container-title:Nat Rev Drug Discov

Author:

Haendel Melissa,Vasilevsky Nicole,Unni Deepak,Bologa Cristian,Harris Nomi,Rehm Heidi,Hamosh Ada,Baynam Gareth,Groza Tudor,McMurry Julie,Dawkins Hugh,Rath Ana,Thaxon Courtney,Bocci Giovanni,Joachimiak Marcin P.,Köhler Sebastian,Robinson Peter N.,Mungall Chris,Oprea Tudor I.

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Pharmacology,General Medicine

Link

http://www.nature.com/articles/d41573-019-00180-y.pdf

Reference5 articles.

1. Haendel, M. A., Chute, C. G. & Robinson, P. N. Classification, ontology, and precision medicine. N. Engl. J. Med. 379, 1452–1462 (2018).

2. Haendel, M. A. et al. A census of disease ontologies. Annu. Rev. Biomed. Data Sci. 1, 305–331 (2018).

3. Oprea, T. I. et al. Unexplored therapeutic opportunities in the human genome. Nat. Rev. Drug Discov. 17, 317-332 (2018).

4. Mungall, C. J. et al. k-BOOM: a Bayesian approach to ontology structure inference, with applications in disease ontology construction. bioRxiv 048843; doi: https://doi.org/10.1101/048843 (2019).

5. Tambuyzer, E. et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat. Rev. Drug Discov. 19, 93–111 (2020).

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