PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Nature Genetics
Volume 51 Issue 11, November 2019
https://www.nature.com/ng/volumes/51/issues/11

 

Comment | 01 November 2019
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp ( https://panelapp.genomicsengland.co.uk ), a publicly available knowledge base of curated virtual gene panels.
Antonio Rueda Martin, Eleanor Williams[…] & Ellen M. McDonagh