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Livija Bardina

As seen in: Nature, medRxiv
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Articles

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making - European Journal of Human Genetics

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By Daphne J. Smits, Federico Ferraro, Mark Drost, Yolande van Bever, Livija Bardina, Hennie T Brüggenwirth, Nienke van Engelen, Geert Geeven, Rebekkah J. Hitti-Malin, Lies H. Hoefsloot, Hanna IJspeert, Sander Lamballais, Merel O. Mol, Rachel Schot, Frank Sleutels, Martina Wilke, Marc Sylva, Tahsin Stefan Barakat, Dmitrijs Rots, Christophe Debuy, Laura Donker Kaat, Wouter te Rijdt, Monique Van Veghel
| Nature Verified
Abstract Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR-GS) delivers genome-wide results within days as a one-test-fits-all solution. As one of the first centers in Europe, we implement ultrarapid LR-GS for critically ill patients.
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Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory

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By Federico Ferraro, Mark Drost, Livija Bardina, Daphne J. Smits
| medRxiv
The authors have declared no competing interest. This research was supported by funding from the Netherlands Organisation for Health Research and Development (ZonMw) (grant number TK, 91718310) I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
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