Register training material
11 materials found

Standard database or policy: Genomics England | PanelApp  or Ensembl 


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

BridgeDbR Tutorial

BridgeDb is a combination of an application programming interface (API), library, and set of data files for mapping identifiers for identical objects [1]. Identifier mapping databases are available for gene products and metabolites. This Bioconductor Vignette explains how to use BridgeDb in the R...

Keywords: ELIXIR RIR, BridgeDb

Resource type: Tutorial, Vignette

Ensembl Browser Workshop: Plants and Microbes

Ensembl is a joint project between European Bioinformatics Institute (EMBL-EBI) and the Wellcome Trust Sanger Institute to provide a source of thorough, integrated annotation data across a variety of genomes.
This one-day workshop not only offers participants the opportunity to glean background...