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

In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-largest university hospital in the Czech Republic. WES was implemented as a first-line test after inclusion in the study as part of the diagnostic workflow.

Type: Exome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000640	In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-largest university hospital in the Czech Republic. WES was implemented as a first-line test after inclusion in the study as part of the diagnostic workflow. This study was prospectively conducted at the Department of Pediatrics at University Hospital Brno between 2020 and 2023.	NextSeq 500	58

Publications	Citations
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases. Slaba K, Pokorna P, Jugas R, Palova H, Prochazkova D, Aulicka S, Spanelova K, Danhofer P, Horak O, Tuckova J, Kleiblova P, Gaillyova R, Hrunka M, Jouza M, Pinkova B, Papez J, Konecna P, Zidkova J, Stourac P, Sterba J, Demlova R, Demlova E, Jabandziev P, Slaby O. Sci Rep 14: 2024 28780	0

Publications

Citations

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K, Pokorna P, Jugas R, Palova H, Prochazkova D, Aulicka S, Spanelova K, Danhofer P, Horak O, Tuckova J, Kleiblova P, Gaillyova R, Hrunka M, Jouza M, Pinkova B, Papez J, Konecna P, Zidkova J, Stourac P, Sterba J, Demlova R, Demlova E, Jabandziev P, Slaby O. Sci Rep 14: 2024 28780