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Phenomics Workshop Series

A series of conferences and community gatherings to coalesce phenomics informatics data structures, ontologies, algorithms, and tools.


Mondo Disease Ontology Workshop

Dates: November 27-29, 2018
Location: Broad Institute, Cambridge, MA, USA
Workshop Organizers: Nicole Vasilevsky (OHSU), Chris Mungall (LBNL), Melissa Haendel (OHSU/OSU)

Focus areas

Mondo is an ontology that unifies multiple disease terminologies. The first Mondo workshop focused on defining ontology patterns and community development processes for ontological disease descriptions. There was a need to provision multiple attributes to a disease for computational classification. The attributes needed to take into account penetrance, expressivity, genetic variation, histology, biomarkers, temporality, somatic and mosaic characteristics, environmental interactions, etc. Additionally, there was a great need for expert clinicians to define clinically relevant navigational grouping classes. These top-down and bottom-up approaches needed to meet in the middle harmoniously. Further, there was a need to enable expert curation groups in projects such as ClinGen, EBI, Orphanet, GARD, MedGen, and OMIM to create disease definitions on the fly, capture the provenance and evidence robustly, and have an identifier for use immediately. This workshop consisted of clinicians and ontologists, as well as expert curators curating genes for clinical utility. The overall goal of the workshop was to exchange curation processes and challenges, and determine requirements for how Mondo could assist in disease definitions across the community.


Slide decks from the workshop are available here

Relevant blog post

New release of Mondo Disease Ontology


A manuscript informed by this workshop is currently in preparation.