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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Authors :
Arianna Tucci
Mark J. Caulfield
Eik Haraldsdottir
Damian Smedley
Kristina Ibáñez
Sarah Leigh
Olivia Niblock
Antonio Rueda Martin
Ivone U. S. Leong
Anna de Burca
Eleanor Williams
Rebecca E. Foulger
Richard H Scott
Ellen M. McDonagh
Emma L. Baple
Louise C. Daugherty
Katherine R. Smith
Ellen Thomas
D. Kasperaviciute
Augusto Rendon
Oleg Gerasimenko
Helen Brittain
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