Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation

Sirarat Sarntivijai, Drashtti Vasant, Simon Jupp, Gary Saunders, A. PatrĂ­cia Bento, Daniel Gonzalez, Joanna Betts, Samiul Hasan, Gautier Koscielny, Ian Dunham, Helen E. Parkinson, James Malone. Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation. J. Biomedical Semantics, 7:8, 2016. [doi]