Standard database or policy: Genomics England | PanelApp or OBO Foundry
This video describes how public health genomics has played a key role in international responses to the COVID-19 pandemic, and how data standards are being used to harmonize data across jurisdictions for Canadian COVID-19 surveillance and outbreak investigations.
The video is aimed at anyone...
Scientific topics: Data integration and warehousing
Keywords: Data integration, Standards, Standardised vocabulary, data harmonization, Ontologies
Resource type: Video
This video describes a community of practice for interoperable ontology building called the OBO Foundry, and highlights a number of well curated and maintained ontologies that are useful for annotating cohort data.
The video is aimed at anyone interested in data standardization and/or the...
Scientific topics: Ontology and terminology, Data management, Data integration and warehousing
Keywords: Ontologies, Cohort data, data annotation
Resource type: Video
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