Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

Abstract In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-la...

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Bibliographic Details
Main Authors: Katerina Slaba, Petra Pokorna, Robin Jugas, Hana Palova, Dagmar Prochazkova, Stefania Aulicka, Klara Spanelova, Pavlina Danhofer, Ondrej Horak, Jana Tuckova, Petra Kleiblova, Renata Gaillyova, Matej Hrunka, Martin Jouza, Blanka Pinkova, Jan Papez, Petra Konecna, Jana Zidkova, Petr Stourac, Jaroslav Sterba, Regina Demlova, Eva Demlova, Petr Jabandziev, Ondrej Slaby
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Reports
Subjects:
Rare genetic diseases
Undiagnosed patients
Whole-exome sequencing
Online Access:https://doi.org/10.1038/s41598-024-79872-4
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