Article
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
European journal of human genetics : EJHG - 1 Jan 2021
Elsink Kim, Huibers Manon M H, Hollink Iris H I M, van der Veken Lars T, Ernst Robert F, Simons Annet, Zonneveld-Huijssoon Evelien, van der Hout Annemieke H, Abbott Kristin M, Hoischen Alexander, Pieterse Marc, Kuijpers Taco W, van Montfrans Joris M, van Gijn Mariëlle E
Abstract excerpt
Dutch genome diagnostic centers (GDC) use next-generation sequencing (NGS)-based diagnostic applications for the diagnosis of primary immunodeficiencies (PIDs). The interpretation of genetic variants in many PIDs is complicated because of the phenotypic and genetic heterogeneity. To analyze uniformity of variant filtering, interpretation, and reporting in NGS-based diagnostics for PID, an external quality...
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