Rare Disease analysis in Mondo: This analysis is intended to answer the question of ‘How many rare diseases are there?’ we analyzed terms in Mondo to get a total count of Rare Diseases as defined in Mondo Disease Ontology (Mondo).
- How many rare diseases are there? Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi Harris, Heidi Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxon, Giovanni Bocci, Marcin P. Joachimiak, Sebastian Köhler, Peter N. Robinson, Chris Mungall & Tudor I. Oprea. Nature Reviews Drug Discovery, 05 November 2019
- The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. Kent A Shefchek, Nomi L Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni, Matthew Brush, Daniel Keith, Tom Conlin, Nicole Vasilevsky, et al. Nucleic Acids Research, gkz997, https://doi.org/10.1093/nar/gkz997.
- k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction. Mungall C, et al. (2019) doi: https://doi.org/10.1101/048843
- A Census of Disease Ontologies. Melissa A. Haendel, Julie A. McMurry, Rose Relevo, Christopher J. Mungall, Peter N. Robinson, and Christopher G. Chute (2018) Annual Review of Biomedical Data Science Vol. 1:305-331
- The Monarch Initiative: An Integrative Data and Analytic Platform Connecting Phenotypes to Genotypes across Species. Mungall, Christopher J., Julie A. McMurry, Sebastian Köhler, James P. Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, et al. 2017. Nucleic Acids Research 45 (D1): D712–22.
- New release of Mondo Disease Ontology - Published June 13, 2019, Monarch Initiative
- Monkeying around with OWL: Musings on building and using ontologies. Posts by Chris Mungall
- Semantic integration across species for rare disease diagnostics, presentation by Melissa Haendel, Michigan CTSA, 2019.
- Mondo Disease Ontology: harmonizing disease concepts around the world, poster presentation by Nicole Vasilevsky, Childhood Cancer Data Initiative Symposium, July 2019.
- Introduction to Mondo, presentation by Chris Mungall, VICC Disease Harmonization call, May 2019
- A comprehensive disease ontology for human disease curation, presentation by Nicole Vasilevsky at the Biocuration 2018 conference
- OBO Tools and Workflows, presentation by Chris Mungall at ICBO 2017