Need Help?

Whole genome sequencing of 50 trios, where the child is affected with ID, and the parents are unaffected

50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. Each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targetted gene and whole exome screening.

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
EGAD00001001694 1
EGAD00001001695 1
EGAD00001001696 1
EGAD00001001697 1
EGAD00001001698 1
EGAD00001001699 1
EGAD00001001700 1
EGAD00001001701 1
EGAD00001001702 1
EGAD00001001703 1
EGAD00001001704 1
EGAD00001001705 1
EGAD00001001706 1
EGAD00001001707 1
EGAD00001001708 1
EGAD00001001709 1
EGAD00001001710 1
EGAD00001001711 1
EGAD00001001712 1
EGAD00001001713 1
EGAD00001001714 1
EGAD00001001715 1
EGAD00001001716 1
EGAD00001001717 1
EGAD00001001718 1
EGAD00001001719 1
EGAD00001001720 1
EGAD00001001721 1
EGAD00001001722 1
EGAD00001001723 1
EGAD00001001724 1
EGAD00001001725 1
EGAD00001001726 1
EGAD00001001727 1
EGAD00001001728 1
EGAD00001001729 1
EGAD00001001730 1
EGAD00001001731 1
EGAD00001001732 1
EGAD00001001733 1
EGAD00001001734 1
EGAD00001001735 1
EGAD00001001736 1
EGAD00001001737 1
EGAD00001001739 1
EGAD00001001740 1
EGAD00001001741 1
EGAD00001001742 1
EGAD00001001743 1
EGAD00001001744 1
EGAD00001001745 1
EGAD00001001746 1
EGAD00001001747 1
EGAD00001001748 1
EGAD00001001749 1
EGAD00001001750 1
EGAD00001001751 1
EGAD00001001752 1
EGAD00001001753 1
EGAD00001001754 1
EGAD00001001755 1
EGAD00001001756 1
EGAD00001001757 1
EGAD00001001758 1
EGAD00001001759 1
EGAD00001001760 1
EGAD00001001761 1
EGAD00001001762 1
EGAD00001001763 1
EGAD00001001764 1
EGAD00001001765 1
EGAD00001001766 1
EGAD00001001767 1
EGAD00001001768 1
EGAD00001001769 1
EGAD00001001770 1
EGAD00001001771 1
EGAD00001001772 1
EGAD00001001773 1
EGAD00001001774 1
EGAD00001001775 1
EGAD00001001776 1
EGAD00001001777 1
EGAD00001001778 1
EGAD00001001779 1
EGAD00001001780 1
EGAD00001001781 1
EGAD00001001783 1
EGAD00001001784 1
EGAD00001001786 1
EGAD00001001787 1
EGAD00001001788 1
EGAD00001001789 1
EGAD00001001790 1
EGAD00001001792 1
EGAD00001001793 1
EGAD00001001794 1
EGAD00001001795 1
EGAD00001001796 1
EGAD00001001797 1
EGAD00001001798 1
EGAD00001001799 1
EGAD00001001800 1
EGAD00001001802 1
EGAD00001001803 1
EGAD00001001804 1
EGAD00001001805 1
EGAD00001001806 1
EGAD00001001807 1
EGAD00001001808 1
EGAD00001001809 1
EGAD00001001810 1
EGAD00001001811 1
EGAD00001001812 1
EGAD00001001813 1
EGAD00001001814 1
EGAD00001001815 1
EGAD00001001816 1
EGAD00001001817 1
EGAD00001001818 1
EGAD00001001819 1
EGAD00001001820 1
EGAD00001001821 1
EGAD00001001822 1
EGAD00001001823 1
EGAD00001001824 1
EGAD00001001825 1
EGAD00001001826 1
EGAD00001001827 1
EGAD00001001828 1
EGAD00001001829 1
EGAD00001001830 1
EGAD00001001831 1
EGAD00001001833 1
EGAD00001001834 1
EGAD00001001835 1
EGAD00001001836 1
EGAD00001001837 1
EGAD00001001838 1
EGAD00001001839 1
EGAD00001001840 1
EGAD00001001841 1
EGAD00001001842 1
EGAD00001001843 1
Publications Citations
CSN1 Somatic Mutations in Penile Squamous Cell Carcinoma.
Cancer Res 76: 2016 4720-4727
24
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.
Trends Neurosci 42: 2019 115-127
33