PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels

We report upon PanelDesign, a framework to support the design of diagnostic next generation DNA sequencing panels with epidemiological information. Two publicly available resources, namely Genomics England PanelApp and Orphadata, were combined into a single data set to allow genes in a given NGS pan...

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Detalhes bibliográficos
Main Authors: Jörg Schmidtke, Peter Philipp, Kathrin Rommel, Ralf Glaubitz, Jörg T. Epplen, Michael Krawczak
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2022-04-01
Colecção:Genes
Assuntos:
genomics
England
panelapp
orphadata
eurogentest/ESHG
recommendations
Acesso em linha:https://www.mdpi.com/2073-4425/13/4/684
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