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- Title
PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.
- Authors
Schmidtke, Jörg; Philipp, Peter; Rommel, Kathrin; Glaubitz, Ralf; Epplen, Jörg T.; Krawczak, Michael
- Abstract
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 panel to be ranked according to the frequency of the associated diseases, thereby highlighting potential core genes as defined by the Eurogenetest/ESHG guidelines for diagnostic next generation DNA sequencing. In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards.
- Subjects
ENGLAND; INFORMATION design; MEDICAL genetics; DNA sequencing; GENETIC epidemiology; GENES
- Publication
Genes, 2022, Vol 13, Issue 4, p684
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13040684