Register training material
3 materials found

Standard database or policy: Genomics England | PanelApp  or OBO Foundry 


Applying data standards to the harmonization of COVID-19 datasets from different sources

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

Useful ontologies for harmonizing cohort data

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 Reviewer’s Guide

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