biostudies-literatureUnknown13(4)Schmidtke JWe 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.Genes684https://www.ebi.ac.uk/biostudies/studies/S-EPMC9030971biostudies-literaturePanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.PMC9030971Krawczak MEpplen JTSchmidtke JGlaubitz RPhilipp PRommel KfalsePanelDesign: 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 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.2022-01-01T00:00:00Z2022 Apr2025-04-04T08:52:52.033Z2025-04-04T08:52:52.033ZS-EPMC90309713545649010.3390/genes13040684