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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Nature Genetics ( IF 30.8 ) Pub Date : 2019-11-01 , DOI: 10.1038/s41588-019-0528-2 Antonio Rueda Martin 1 , Eleanor Williams 1 , Rebecca E Foulger 1 , Sarah Leigh 1 , Louise C Daugherty 1 , Olivia Niblock 1 , Ivone U S Leong 1 , Katherine R Smith 1, 2 , Oleg Gerasimenko 1 , Eik Haraldsdottir 1 , Ellen Thomas 1, 3 , Richard H Scott 1 , Emma Baple 1, 4, 5 , Arianna Tucci 1 , Helen Brittain 1 , Anna de Burca 1, 6 , Kristina Ibañez 1 , Dalia Kasperaviciute 1, 2 , Damian Smedley 1, 2 , Mark Caulfield 1, 2 , Augusto Rendon 1, 7 , Ellen M McDonagh 1, 2
Nature Genetics ( IF 30.8 ) Pub Date : 2019-11-01 , DOI: 10.1038/s41588-019-0528-2 Antonio Rueda Martin 1 , Eleanor Williams 1 , Rebecca E Foulger 1 , Sarah Leigh 1 , Louise C Daugherty 1 , Olivia Niblock 1 , Ivone U S Leong 1 , Katherine R Smith 1, 2 , Oleg Gerasimenko 1 , Eik Haraldsdottir 1 , Ellen Thomas 1, 3 , Richard H Scott 1 , Emma Baple 1, 4, 5 , Arianna Tucci 1 , Helen Brittain 1 , Anna de Burca 1, 6 , Kristina Ibañez 1 , Dalia Kasperaviciute 1, 2 , Damian Smedley 1, 2 , Mark Caulfield 1, 2 , Augusto Rendon 1, 7 , Ellen M McDonagh 1, 2
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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.
中文翻译：
PanelApp 众包专家知识以建立共识诊断基因面板。
罕见病诊断的一个基本问题是对于哪些基因有足够的证据来归因于因果关系缺乏共识。为了解决这个问题，我们创建了 PanelApp (https://panelapp.genomicsengland.co.uk)，这是一个公开可用的精选虚拟基因面板知识库。
更新日期：2019-11-01
中文翻译：
PanelApp 众包专家知识以建立共识诊断基因面板。
罕见病诊断的一个基本问题是对于哪些基因有足够的证据来归因于因果关系缺乏共识。为了解决这个问题，我们创建了 PanelApp (https://panelapp.genomicsengland.co.uk)，这是一个公开可用的精选虚拟基因面板知识库。
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