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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Detalles Bibliográficos
Autores principales: Schmidtke, Jörg, Philipp, Peter, Rommel, Kathrin, Glaubitz, Ralf, Epplen, Jörg T., Krawczak, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030971/
https://www.ncbi.nlm.nih.gov/pubmed/35456490
http://dx.doi.org/10.3390/genes13040684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030971/
https://www.ncbi.nlm.nih.gov/pubmed/35456490
http://dx.doi.org/10.3390/genes13040684

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