{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(4)"],"submitter":["Schmidtke J"],"pubmed_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."],"journal":["Genes"],"pagination":["684"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9030971"],"repository":["biostudies-literature"],"pubmed_title":["PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels."],"pmcid":["PMC9030971"],"pubmed_authors":["Krawczak M","Epplen JT","Schmidtke J","Glaubitz R","Philipp P","Rommel K"],"additional_accession":[]},"is_claimable":false,"name":"PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.","description":"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.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-04T08:52:52.033Z","creation":"2025-04-04T08:52:52.033Z"},"accession":"S-EPMC9030971","cross_references":{"pubmed":["35456490"],"doi":["10.3390/genes13040684"]}}