PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Sign Up to like & getrecommendations! Published in 2019 at "Nature Genetics"
DOI: 10.1038/s41588-019-0528-2
Abstract: 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… read more here.
Keywords: crowdsources expert; expert knowledge; panelapp crowdsources; consensus ... See more keywords