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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. This study was prospectively conducted at the Department of Pediatrics at University Hospital Brno between 2020 and 2023.

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CEITEC DAC

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS50000000442 Exome Sequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF50000151698 fastq.gz 1.9 GB
EGAF50000151699 fastq.gz 1.9 GB
EGAF50000151700 fastq.gz 3.0 GB
EGAF50000151701 fastq.gz 2.9 GB
EGAF50000151702 fastq.gz 2.6 GB
EGAF50000151703 fastq.gz 2.6 GB
EGAF50000151704 fastq.gz 2.6 GB
EGAF50000151705 fastq.gz 2.7 GB
EGAF50000151706 fastq.gz 1.9 GB
EGAF50000151707 fastq.gz 2.0 GB
EGAF50000151708 fastq.gz 2.2 GB
EGAF50000151709 fastq.gz 2.2 GB
EGAF50000151710 fastq.gz 2.9 GB
EGAF50000151711 fastq.gz 2.2 GB
EGAF50000151712 fastq.gz 2.2 GB
EGAF50000151713 fastq.gz 3.0 GB
EGAF50000151714 fastq.gz 2.6 GB
EGAF50000151715 fastq.gz 2.7 GB
EGAF50000151716 fastq.gz 3.0 GB
EGAF50000151717 fastq.gz 2.9 GB
EGAF50000151718 fastq.gz 3.0 GB
EGAF50000151719 fastq.gz 3.0 GB
EGAF50000151720 fastq.gz 1.3 GB
EGAF50000151721 fastq.gz 1.3 GB
EGAF50000151722 fastq.gz 2.2 GB
EGAF50000151723 fastq.gz 2.3 GB
EGAF50000151724 fastq.gz 3.7 GB
EGAF50000151725 fastq.gz 3.8 GB
EGAF50000151726 fastq.gz 4.2 GB
EGAF50000151727 fastq.gz 4.4 GB
EGAF50000151728 fastq.gz 4.8 GB
EGAF50000151729 fastq.gz 4.7 GB
EGAF50000151730 fastq.gz 2.5 GB
EGAF50000151731 fastq.gz 2.1 GB
EGAF50000151732 fastq.gz 2.5 GB
EGAF50000151733 fastq.gz 2.1 GB
EGAF50000151734 fastq.gz 3.1 GB
EGAF50000151735 fastq.gz 3.3 GB
EGAF50000151736 fastq.gz 3.4 GB
EGAF50000151737 fastq.gz 3.5 GB
EGAF50000151738 fastq.gz 3.0 GB
EGAF50000151739 fastq.gz 3.0 GB
EGAF50000151740 fastq.gz 3.0 GB
EGAF50000151741 fastq.gz 3.0 GB
EGAF50000151742 fastq.gz 3.1 GB
EGAF50000151743 fastq.gz 3.0 GB
EGAF50000151744 fastq.gz 3.1 GB
EGAF50000151745 fastq.gz 2.3 GB
EGAF50000151746 fastq.gz 3.2 GB
EGAF50000151747 fastq.gz 2.4 GB
EGAF50000151748 fastq.gz 2.6 GB
EGAF50000151749 fastq.gz 2.3 GB
EGAF50000151750 fastq.gz 2.7 GB
EGAF50000151751 fastq.gz 2.4 GB
EGAF50000151752 fastq.gz 2.9 GB
EGAF50000151753 fastq.gz 3.1 GB
EGAF50000151754 fastq.gz 2.9 GB
EGAF50000151755 fastq.gz 3.0 GB
EGAF50000151756 fastq.gz 1.9 GB
EGAF50000151757 fastq.gz 1.9 GB
EGAF50000151758 fastq.gz 3.1 GB
EGAF50000151759 fastq.gz 3.1 GB
EGAF50000151760 fastq.gz 3.1 GB
EGAF50000151761 fastq.gz 3.1 GB
EGAF50000151762 fastq.gz 1.9 GB
EGAF50000151763 fastq.gz 1.9 GB
EGAF50000151764 fastq.gz 1.7 GB
EGAF50000151765 fastq.gz 1.8 GB
EGAF50000151766 fastq.gz 1.8 GB
EGAF50000151767 fastq.gz 1.9 GB
EGAF50000151768 fastq.gz 1.8 GB
EGAF50000151769 fastq.gz 1.9 GB
EGAF50000151770 fastq.gz 2.1 GB
EGAF50000151771 fastq.gz 2.2 GB
EGAF50000151772 fastq.gz 3.2 GB
EGAF50000151773 fastq.gz 3.1 GB
EGAF50000151774 fastq.gz 2.4 GB
EGAF50000151775 fastq.gz 2.4 GB
EGAF50000151776 fastq.gz 2.3 GB
EGAF50000151777 fastq.gz 2.1 GB
EGAF50000151778 fastq.gz 2.4 GB
EGAF50000151779 fastq.gz 2.1 GB
EGAF50000151780 fastq.gz 2.0 GB
EGAF50000151781 fastq.gz 2.0 GB
EGAF50000151782 fastq.gz 2.5 GB
EGAF50000151783 fastq.gz 1.6 GB
EGAF50000151784 fastq.gz 2.5 GB
EGAF50000151785 fastq.gz 1.6 GB
EGAF50000151786 fastq.gz 2.1 GB
EGAF50000151787 fastq.gz 2.2 GB
EGAF50000151788 fastq.gz 2.2 GB
EGAF50000151789 fastq.gz 2.1 GB
EGAF50000151790 fastq.gz 1.7 GB
EGAF50000151791 fastq.gz 1.6 GB
EGAF50000151792 fastq.gz 1.5 GB
EGAF50000151793 fastq.gz 1.6 GB
EGAF50000151794 fastq.gz 2.0 GB
EGAF50000151795 fastq.gz 2.2 GB
EGAF50000151796 fastq.gz 2.1 GB
EGAF50000151797 fastq.gz 1.7 GB
EGAF50000151798 fastq.gz 1.8 GB
EGAF50000151799 fastq.gz 2.3 GB
EGAF50000151800 fastq.gz 1.5 GB
EGAF50000151801 fastq.gz 1.4 GB
EGAF50000151802 fastq.gz 1.5 GB
EGAF50000151803 fastq.gz 1.5 GB
EGAF50000151804 fastq.gz 1.5 GB
EGAF50000151805 fastq.gz 1.4 GB
EGAF50000151806 fastq.gz 2.2 GB
EGAF50000151807 fastq.gz 2.2 GB
EGAF50000151808 fastq.gz 2.2 GB
EGAF50000151809 fastq.gz 2.0 GB
EGAF50000151810 fastq.gz 2.0 GB
EGAF50000151811 fastq.gz 1.9 GB
EGAF50000151812 fastq.gz 2.0 GB
EGAF50000151813 fastq.gz 2.2 GB
116 Files (281.7 GB)