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Genomic Data from Newborn Screening Samples

This dataset comprises whole-exome sequencing (WES) data from critically ill neonates enrolled as part of a genomic newborn screening programme. Samples were analysed to identify genetic variants potentially associated with neonatal illness and underlying inherited disorders. WES was performed using lllumina Sequencing platform-NovaSeqX, and the resulting sequencing data are provided in FASTQ format.

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Study ID Study Title Study Type
EGAS50000002069 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
EGAF50000954595 fastq.gz 2.6 GB
EGAF50000954596 fastq.gz 2.7 GB
EGAF50000954597 fastq.gz 3.4 GB
EGAF50000954598 fastq.gz 3.4 GB
EGAF50000954599 fastq.gz 3.1 GB
EGAF50000954600 fastq.gz 2.5 GB
EGAF50000954601 fastq.gz 2.5 GB
EGAF50000954602 fastq.gz 2.1 GB
EGAF50000954603 fastq.gz 3.0 GB
EGAF50000954604 fastq.gz 2.6 GB
EGAF50000954605 fastq.gz 2.7 GB
EGAF50000954606 fastq.gz 3.2 GB
EGAF50000954607 fastq.gz 2.2 GB
EGAF50000954608 fastq.gz 2.2 GB
EGAF50000954609 fastq.gz 3.5 GB
EGAF50000954610 fastq.gz 4.3 GB
EGAF50000954611 fastq.gz 4.5 GB
EGAF50000954612 fastq.gz 4.2 GB
EGAF50000954613 fastq.gz 4.3 GB
EGAF50000954614 fastq.gz 4.2 GB
EGAF50000954615 fastq.gz 2.2 GB
EGAF50000954616 fastq.gz 2.3 GB
EGAF50000954617 fastq.gz 6.2 GB
EGAF50000954618 fastq.gz 2.5 GB
EGAF50000954619 fastq.gz 2.4 GB
EGAF50000954620 fastq.gz 2.4 GB
EGAF50000954621 fastq.gz 3.3 GB
EGAF50000954622 fastq.gz 2.7 GB
EGAF50000954623 fastq.gz 3.0 GB
EGAF50000954624 fastq.gz 3.1 GB
EGAF50000954625 fastq.gz 3.1 GB
EGAF50000954626 fastq.gz 2.5 GB
EGAF50000954627 fastq.gz 2.2 GB
EGAF50000954628 fastq.gz 2.2 GB
EGAF50000954629 fastq.gz 2.3 GB
EGAF50000954630 fastq.gz 3.2 GB
EGAF50000954631 fastq.gz 3.2 GB
EGAF50000954632 fastq.gz 3.3 GB
EGAF50000954633 fastq.gz 3.2 GB
EGAF50000954634 fastq.gz 3.4 GB
EGAF50000954635 fastq.gz 3.4 GB
EGAF50000954636 fastq.gz 3.2 GB
EGAF50000954637 fastq.gz 2.0 GB
EGAF50000954638 fastq.gz 2.1 GB
EGAF50000954639 fastq.gz 2.3 GB
EGAF50000954640 fastq.gz 2.7 GB
EGAF50000954641 fastq.gz 3.6 GB
EGAF50000954642 fastq.gz 4.2 GB
EGAF50000954643 fastq.gz 2.6 GB
EGAF50000954644 fastq.gz 2.8 GB
EGAF50000954645 fastq.gz 2.1 GB
EGAF50000954646 fastq.gz 2.1 GB
EGAF50000954647 fastq.gz 2.3 GB
EGAF50000954648 fastq.gz 2.3 GB
EGAF50000954649 fastq.gz 2.7 GB
EGAF50000954650 fastq.gz 2.0 GB
EGAF50000954651 fastq.gz 2.0 GB
EGAF50000954652 fastq.gz 2.1 GB
EGAF50000954653 fastq.gz 1.1 GB
EGAF50000954654 fastq.gz 1.8 GB
EGAF50000954655 fastq.gz 2.7 GB
EGAF50000954656 fastq.gz 2.7 GB
EGAF50000954657 fastq.gz 2.7 GB
EGAF50000954658 fastq.gz 2.3 GB
EGAF50000954659 fastq.gz 2.3 GB
EGAF50000954660 fastq.gz 2.1 GB
EGAF50000954661 fastq.gz 2.1 GB
EGAF50000954662 fastq.gz 3.0 GB
EGAF50000954663 fastq.gz 3.0 GB
EGAF50000954664 fastq.gz 2.5 GB
EGAF50000954665 fastq.gz 2.5 GB
EGAF50000954666 fastq.gz 2.8 GB
EGAF50000954667 fastq.gz 2.6 GB
EGAF50000954668 fastq.gz 2.2 GB
EGAF50000954669 fastq.gz 2.1 GB
EGAF50000954670 fastq.gz 2.5 GB
EGAF50000954671 fastq.gz 2.4 GB
EGAF50000954672 fastq.gz 2.9 GB
EGAF50000954673 fastq.gz 2.8 GB
EGAF50000954674 fastq.gz 2.8 GB
EGAF50000954675 fastq.gz 2.9 GB
EGAF50000954676 fastq.gz 4.1 GB
EGAF50000954677 fastq.gz 2.8 GB
EGAF50000954678 fastq.gz 2.4 GB
EGAF50000954679 fastq.gz 2.6 GB
EGAF50000954680 fastq.gz 2.8 GB
EGAF50000954681 fastq.gz 2.8 GB
EGAF50000954682 fastq.gz 2.7 GB
EGAF50000954683 fastq.gz 2.7 GB
EGAF50000954684 fastq.gz 2.7 GB
EGAF50000954685 fastq.gz 3.3 GB
EGAF50000954686 fastq.gz 3.4 GB
EGAF50000954687 fastq.gz 2.3 GB
EGAF50000954688 fastq.gz 2.3 GB
EGAF50000954689 fastq.gz 1.5 GB
EGAF50000954690 fastq.gz 2.7 GB
EGAF50000954691 fastq.gz 2.7 GB
EGAF50000954692 fastq.gz 1.4 GB
EGAF50000954693 fastq.gz 1.4 GB
EGAF50000954694 fastq.gz 2.2 GB
EGAF50000954695 fastq.gz 2.2 GB
EGAF50000954696 fastq.gz 2.0 GB
EGAF50000954697 fastq.gz 2.0 GB
EGAF50000954698 fastq.gz 2.7 GB
EGAF50000954699 fastq.gz 2.7 GB
EGAF50000954700 fastq.gz 2.7 GB
EGAF50000954701 fastq.gz 2.7 GB
EGAF50000954702 fastq.gz 2.9 GB
EGAF50000954703 fastq.gz 2.9 GB
EGAF50000954704 fastq.gz 2.2 GB
EGAF50000954705 fastq.gz 2.2 GB
EGAF50000954706 fastq.gz 2.5 GB
EGAF50000954707 fastq.gz 2.1 GB
EGAF50000954708 fastq.gz 3.2 GB
EGAF50000954709 fastq.gz 2.5 GB
EGAF50000954710 fastq.gz 2.5 GB
EGAF50000954711 fastq.gz 5.2 GB
EGAF50000954712 fastq.gz 5.3 GB
EGAF50000954713 fastq.gz 4.4 GB
EGAF50000954714 fastq.gz 2.2 GB
EGAF50000954715 fastq.gz 2.5 GB
EGAF50000954716 fastq.gz 3.1 GB
EGAF50000954717 fastq.gz 1.5 GB
EGAF50000954718 fastq.gz 3.1 GB
EGAF50000954719 fastq.gz 2.8 GB
EGAF50000954720 fastq.gz 1.4 GB
EGAF50000954721 fastq.gz 1.4 GB
EGAF50000954722 fastq.gz 2.8 GB
EGAF50000954723 fastq.gz 3.3 GB
EGAF50000954724 fastq.gz 2.5 GB
EGAF50000954725 fastq.gz 2.7 GB
EGAF50000954726 fastq.gz 2.6 GB
EGAF50000954727 fastq.gz 2.8 GB
EGAF50000954728 fastq.gz 2.8 GB
EGAF50000954729 fastq.gz 3.6 GB
EGAF50000954730 fastq.gz 3.7 GB
EGAF50000954731 fastq.gz 2.6 GB
EGAF50000954732 fastq.gz 2.6 GB
EGAF50000954733 fastq.gz 2.5 GB
EGAF50000954734 fastq.gz 2.3 GB
EGAF50000954735 fastq.gz 2.3 GB
EGAF50000954736 fastq.gz 3.2 GB
EGAF50000954737 fastq.gz 2.9 GB
EGAF50000954738 fastq.gz 2.6 GB
EGAF50000954739 fastq.gz 3.0 GB
EGAF50000954740 fastq.gz 6.2 GB
EGAF50000954741 fastq.gz 2.9 GB
EGAF50000954742 fastq.gz 6.4 GB
EGAF50000954743 fastq.gz 6.1 GB
EGAF50000954744 fastq.gz 2.7 GB
EGAF50000954745 fastq.gz 2.7 GB
EGAF50000954746 fastq.gz 2.6 GB
EGAF50000954747 fastq.gz 2.5 GB
EGAF50000954748 fastq.gz 2.5 GB
EGAF50000954749 fastq.gz 1.8 GB
EGAF50000954750 fastq.gz 1.8 GB
EGAF50000954751 fastq.gz 2.1 GB
EGAF50000954752 fastq.gz 3.2 GB
EGAF50000954753 fastq.gz 2.6 GB
EGAF50000954754 fastq.gz 2.6 GB
EGAF50000954755 fastq.gz 2.6 GB
EGAF50000954756 fastq.gz 2.5 GB
EGAF50000954757 fastq.gz 2.6 GB
EGAF50000954758 fastq.gz 2.4 GB
EGAF50000954759 fastq.gz 2.4 GB
EGAF50000954760 fastq.gz 1.8 GB
EGAF50000954761 fastq.gz 1.8 GB
EGAF50000954762 fastq.gz 3.0 GB
EGAF50000954763 fastq.gz 3.0 GB
EGAF50000954764 fastq.gz 2.4 GB
EGAF50000954765 fastq.gz 2.4 GB
EGAF50000954766 fastq.gz 3.6 GB
EGAF50000954767 fastq.gz 3.6 GB
EGAF50000954768 fastq.gz 2.8 GB
EGAF50000954769 fastq.gz 2.8 GB
EGAF50000954770 fastq.gz 3.2 GB
EGAF50000954771 fastq.gz 3.3 GB
EGAF50000954772 fastq.gz 2.2 GB
EGAF50000954773 fastq.gz 2.2 GB
EGAF50000954774 fastq.gz 4.1 GB
EGAF50000954775 fastq.gz 3.9 GB
EGAF50000954776 fastq.gz 2.3 GB
EGAF50000954777 fastq.gz 2.4 GB
EGAF50000954778 fastq.gz 3.4 GB
EGAF50000954779 fastq.gz 3.5 GB
EGAF50000954780 fastq.gz 2.8 GB
EGAF50000954781 fastq.gz 2.9 GB
EGAF50000954782 fastq.gz 2.7 GB
EGAF50000954783 fastq.gz 2.6 GB
EGAF50000954784 fastq.gz 2.6 GB
EGAF50000954785 fastq.gz 2.4 GB
EGAF50000954786 fastq.gz 2.7 GB
EGAF50000954787 fastq.gz 2.7 GB
EGAF50000954788 fastq.gz 2.3 GB
EGAF50000954789 fastq.gz 2.3 GB
EGAF50000954790 fastq.gz 2.4 GB
EGAF50000954791 fastq.gz 2.4 GB
EGAF50000954792 fastq.gz 2.7 GB
EGAF50000954793 fastq.gz 2.3 GB
EGAF50000954794 fastq.gz 2.3 GB
EGAF50000954795 fastq.gz 2.7 GB
EGAF50000954796 fastq.gz 2.4 GB
EGAF50000954797 fastq.gz 1.9 GB
EGAF50000954798 fastq.gz 1.9 GB
EGAF50000954799 fastq.gz 1.9 GB
EGAF50000954800 fastq.gz 2.0 GB
EGAF50000954801 fastq.gz 3.2 GB
EGAF50000954802 fastq.gz 3.3 GB
EGAF50000954803 fastq.gz 2.5 GB
EGAF50000954804 fastq.gz 2.6 GB
210 Files (579.6 GB)