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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-04-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/13/4/684 |
| _version_ | 1797434648599461888 |
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| author | Jörg Schmidtke Peter Philipp Kathrin Rommel Ralf Glaubitz Jörg T. Epplen Michael Krawczak |
| author_facet | Jörg Schmidtke Peter Philipp Kathrin Rommel Ralf Glaubitz Jörg T. Epplen Michael Krawczak |
| author_sort | Jörg Schmidtke |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T10:35:14Z |
| format | Article |
| id | doaj.art-84dfdbe384a94bf6a8e3673fa2e14042 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T10:35:14Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-84dfdbe384a94bf6a8e3673fa2e140422023-12-01T20:57:30ZengMDPI AGGenes2073-44252022-04-0113468410.3390/genes13040684PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene PanelsJörg Schmidtke0Peter Philipp1Kathrin Rommel2Ralf Glaubitz3Jörg T. Epplen4Michael Krawczak5amedes MVZ wagnerstibbe, Georgstrasse 50, D-30159 Hannover, Germanyamedes Medizinische Dienstleistungen GmbH, Haferweg 40, D-22769 Hamburg, GermanyBundesinstitut für Arzneimittel und Medizinprodukte (BfArM), Kurt-Georg-Kiesinger-Allee 3, D-53175 Bonn, Germanyamedes MVZ wagnerstibbe, Georgstrasse 50, D-30159 Hannover, Germanyamedes MVZ wagnerstibbe, Georgstrasse 50, D-30159 Hannover, GermanyInstitute of Medical Informatics and Statistics, Kiel University, University Hospital Schleswig-Holstein Campus Kiel, Brunswiker Strasse 10, D-24105 Kiel, GermanyWe 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.https://www.mdpi.com/2073-4425/13/4/684genomicsEnglandpanelapporphadataeurogentest/ESHGrecommendations |
| spellingShingle | Jörg Schmidtke Peter Philipp Kathrin Rommel Ralf Glaubitz Jörg T. Epplen Michael Krawczak PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels Genes genomics England panelapp orphadata eurogentest/ESHG recommendations |
| title | PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels |
| title_full | PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels |
| title_fullStr | PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels |
| title_full_unstemmed | PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels |
| title_short | PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels |
| title_sort | paneldesign integrating epidemiological information into the design of diagnostic ngs gene panels |
| topic | genomics England panelapp orphadata eurogentest/ESHG recommendations |
| url | https://www.mdpi.com/2073-4425/13/4/684 |
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