Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Journal of inherited metabolic disease - 1 Jul 2022
Wortmann Saskia B, Oud Machteld M, Alders Mariëlle, Coene Karlien L M, van der Crabben Saskia N, Feichtinger René G, Garanto Alejandro, Hoischen Alex, Langeveld Mirjam, Lefeber Dirk, Mayr Johannes A, Ockeloen Charlotte W, Prokisch Holger, Rodenburg Richard, Waterham Hans R, Wevers Ron A, van de Warrenburg Bart P C, Willemsen Michel A A P, Wolf Nicole I, Vissers Lisenka E L M, van Karnebeek Clara D M
Abstract excerpt
Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely molecular diagnosis for a greater number of patients, but it still leaves the majority of patients without a diagnosis. In parallel, (personalized) treatment strategies are increasingly available, but this requires the availability of a molecular diagnosis. IMDs...
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