Standard database or policy: PRINTS or Genomics England | PanelApp
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
A presentation designed to introduce the concept of protein family analysis and characterisation using motif-based methods, with a particular focus on protein fingerprinting. Following a general introduction to sequence analysis, and the fingerprint approach, specific examples are given to...
Keywords: Functional diagnosis, Protein family characterisation, Protein sequence analysis
