PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

NATURE GENETICS（2019）

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摘要

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.

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关键词

Clinical genetics,Diseases,Genomic analysis,Genomics,Medical genetics,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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