Photo from academic.microsoft.com
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),… Click to show full 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.
Keywords:
crowdsources expert;
expert knowledge;
panelapp crowdsources;
consensus;
gene panels
Journal Title: Nature Genetics
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Nature Genetics
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!