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| http://dx.doi.org/10.1038/ejhg.2015.229 | DOI Listing |
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PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.
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Institute of Medical Informatics and Statistics, Kiel University, University Hospital Schleswig-Holstein Campus Kiel, Brunswiker Strasse 10, D-24105 Kiel, Germany.
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.
View Article and Find Full Text PDFConsensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.
Med Clin (Barc)
July 2018
Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, L'Hospitalet del Llobregat, Barcelona, Spain. Electronic address:
Genetic diagnosis of hereditary cancer syndromes offers the opportunity to establish more effective predictive and preventive measures for the patient and their families. The ultimate objective is to decrease cancer morbidity and mortality in high genetic risk families. Next Generation Sequencing (NGS) offers an important improvement in the efficiency of genetic diagnosis, allowing an increase in diagnostic yield with a substantial reduction in response times and economic costs.
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Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
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