Gea Kiewiet, Dineke Westra, Eddy N de Boer, Emma van Berkel, Tom G J Hofste, Martine van Zweeden, Ronny C Derks, Nico F A Leijsten, Martina H A Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J Veenstra, Monique G M de Sain-van der Velden, Els Voorhoeve, M Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS) from 50 patients with genetically confirmed inherited metabolic disorders (IMDs) and 50 control samples. One hundred IMD-related genes were analyzed. Two data-filtering strategies were applied: one to detect only (likely) pathogenic ((L)P) variants, and one to detect (L)P variants in combination with variants of unknown significance (VUS)...
March 7, 2024: International Journal of Neonatal Screening