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As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

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