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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
- Source :
- Nature Genetics. 51:1560-1565
- Publication Year :
- 2019
- Publisher :
- Springer Science and Business Media LLC, 2019.
-
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 of curated virtual gene panels.
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 51
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi...........c7fe12a7e1e934ed3d41e56fd9d4eecf
- Full Text :
- https://doi.org/10.1038/s41588-019-0528-2