- New view of the Mondo Disease Ontology High-level Classification According to Harrison’s Principles of Internal Medicine textbook. Sabrina Toro, Ada Hamosh, Nico Matentzoglu, Monica Munoz-Torres, Lauren Chan, Courtney Thaxton, Gioconda Alyea, Melissa Haendel, Chris Mungall, Peter N Robinson, & Nicole Vasilevsky. Zenodo. https://doi.org/10.5281/zenodo.5273598
- 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.
- Mondo Disease Ontology Highlights from 2021 By Sabrina Toro and Nicole Vasilevsky - Published December 01, 2021, Monarch Initiative
- The Mondo ‘Cat’-a-log and Mondo Highlights from 2020 by Nicole Vasilevsky - Published December 18, 2020, Monarch Intiative
- 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
- Mondo Disease Ontology: harmonizing disease concepts across the world. Nicole Vasilevsky, Nico Matentzoglu, Dazhi Jiao, Melissa Haendel, Peter Robinson, Chris Mungall. (2021) [Poster presentation and Lightning Talk] Curating the Clinical Genome (virtual). May 12, 2021. Recording here.
- Aligning Design Patterns Across Multiple Ontologies in the Life Sciences by Chris Mungall, Keynote at 11th Workshop on Ontology Design and Patterns - WOP2020. Recording here. Meeting info here.
- How Many Rare Diseases Are There? How Good Identifier Provisioning Can Help Answer This Question by Melissa Haendel, PIDapalooza 2021.
- Modeling and making computable the complex interplay between environmental and genetic causes and phenotypic outcomes by Melissa Haendel. Kohane Journal Club 2021.
- Mondo: The world’s disease concepts, unified by Nicole Vasilvsky, ClinGen Biocurators Working Group meeting, October 22, 2020.
- Mondo Disease Ontology: harmonizing disease concepts across the world by Nicole Vasilevsky, Shahim Essaid, Nico Matentzoglu, Nomi L. Harris, Melissa Haendel, Peter Robinson, Christopher J. Mungall. Poster presentation at International Conference on Biomedical Ontology (ICBO), Virtual conference. Poster here
- Mondo: a unified disease resource connecting clinical and translational research by Chris Mungall, Pistoia Alliance, July 2020. Recording here
- Mondo: The world’s disease concepts, unified by Chris Mungall and Nicole Vasilevsky, GAG4H Meeting, June 18, 2020. Recording here
- 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
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).