Register training material
2 materials found

Standard database or policy: Genomics England | PanelApp  or Identifiers.org Registry 


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