Workshop of 1.5h where the eNanoMapper ontology and a few uses are discussed. The exercises walk the audience trough the principles, uses, and demonstrates how they can actively work with the ontology.
Scientific topics: Ontology and terminology, Toxicology
Resource type: Tutorial
PanelApp (https://panelapp.genomicsengland.co.uk/) is a database for gene panels for use in disease diagnosis that enables crowdsourcing of expert reviews. This guide provides background, evidence guidelines and a tutorial of how to use the review tool in PanelApp to provide your expert review of...
Scientific topics: Rare diseases, Genomics
Keywords: Gene lists, Genomics, human disease, Biocuration
Resource type: knowledgebase