PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.

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.

SUBMITTER: Schmidtke J 

PROVIDER: S-EPMC9030971 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature