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Abnormal foetal development exome trios

This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group

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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
EGAS00001000167 Other

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
EGAF00000102905 bam 6.0 GB Report
EGAF00000102906 bam 6.4 GB Report
EGAF00000102907 bam 6.8 GB Report
EGAF00000102908 bam 7.5 GB Report
EGAF00000102909 bam 7.3 GB Report
EGAF00000102910 bam 3.7 GB Report
EGAF00000102911 bam 4.3 GB Report
EGAF00000102912 bam 3.9 GB Report
EGAF00000102913 bam 4.1 GB Report
EGAF00000102914 bam 4.3 GB Report
EGAF00000102915 bam 4.4 GB Report
EGAF00000102916 bam 3.9 GB Report
EGAF00000102917 bam 4.4 GB Report
EGAF00000102918 bam 4.2 GB Report
EGAF00000102919 bam 5.2 GB Report
EGAF00000102920 bam 4.5 GB Report
EGAF00000102921 bam 4.5 GB Report
EGAF00000102922 bam 4.9 GB Report
EGAF00000102923 bam 4.5 GB Report
EGAF00000102924 bam 4.2 GB Report
EGAF00000102925 bam 6.3 GB Report
EGAF00000102926 bam 5.7 GB Report
EGAF00000102927 bam 6.3 GB Report
EGAF00000102928 bam 5.3 GB Report
EGAF00000102929 bam 5.3 GB Report
EGAF00000102930 bam 5.7 GB Report
EGAF00000102931 bam 5.3 GB Report
EGAF00000102932 bam 5.5 GB Report
EGAF00000102933 bam 5.4 GB Report
EGAF00000102934 bam 5.1 GB Report
EGAF00000102935 bam 5.9 GB Report
EGAF00000102936 bam 5.4 GB Report
EGAF00000102937 bam 5.5 GB Report
EGAF00000102938 bam 5.5 GB Report
EGAF00000102939 bam 6.5 GB Report
EGAF00000102940 bam 6.3 GB Report
EGAF00000102941 bam 6.3 GB Report
EGAF00000102942 bam 4.2 GB Report
EGAF00000102943 bam 3.2 GB Report
EGAF00000102944 bam 4.3 GB Report
EGAF00000102945 bam 4.6 GB Report
EGAF00000102946 bam 4.6 GB Report
EGAF00000102947 bam 4.8 GB Report
EGAF00000102948 bam 4.6 GB Report
EGAF00000102949 bam 4.5 GB Report
EGAF00000102950 bam 4.4 GB Report
EGAF00000102951 bam 4.4 GB Report
EGAF00000102952 bam 4.4 GB Report
EGAF00000102953 bam 4.6 GB Report
EGAF00000102954 bam 4.5 GB Report
EGAF00000102955 bam 4.7 GB Report
EGAF00000102956 bam 4.3 GB Report
EGAF00000102957 bam 4.6 GB Report
EGAF00000102958 bam 6.1 GB Report
EGAF00000102959 bam 6.2 GB Report
EGAF00000102960 bam 7.1 GB Report
EGAF00000102961 bam 6.1 GB Report
EGAF00000102962 bam 7.1 GB Report
EGAF00000102963 bam 3.7 GB Report
EGAF00000102964 bam 4.0 GB Report
EGAF00000102965 bam 4.4 GB Report
EGAF00000102966 bam 4.5 GB Report
EGAF00000102967 bam 4.3 GB Report
EGAF00000102968 bam 4.7 GB Report
EGAF00000102969 bam 4.4 GB Report
EGAF00000102970 bam 4.5 GB Report
EGAF00000102971 bam 4.7 GB Report
EGAF00000102972 bam 4.6 GB Report
EGAF00000102973 bam 5.0 GB Report
EGAF00000102974 bam 5.5 GB Report
EGAF00000102975 bam 5.2 GB Report
EGAF00000102976 bam 4.7 GB Report
EGAF00000102977 bam 4.9 GB Report
EGAF00000104511 bam 3.8 GB Report
EGAF00000104512 bam 3.7 GB Report
EGAF00000113164 bam 3.7 GB Report
EGAF00000113165 bam 3.8 GB Report
EGAF00000113166 bam 3.6 GB Report
EGAF00000113167 bam 3.9 GB Report
EGAF00000113168 bam 3.6 GB Report
EGAF00000113169 bam 3.7 GB Report
EGAF00000113170 bam 4.2 GB Report
EGAF00000113171 bam 4.1 GB Report
EGAF00000113172 bam 4.5 GB Report
EGAF00000113173 bam 5.0 GB Report
EGAF00000113174 bam 4.7 GB Report
EGAF00000113175 bam 4.2 GB Report
EGAF00000113176 bam 4.5 GB Report
EGAF00000115743 bam 5.4 GB Report
EGAF00000115744 bam 5.7 GB Report
EGAF00000115745 bam 6.1 GB Report
EGAF00000115746 bam 6.7 GB Report
EGAF00000115747 bam 6.6 GB Report
EGAF00000115748 bam 2.7 GB Report
EGAF00000115749 bam 3.1 GB Report
EGAF00000115750 bam 2.8 GB Report
EGAF00000115751 bam 3.0 GB Report
EGAF00000115752 bam 3.1 GB Report
EGAF00000115753 bam 3.2 GB Report
EGAF00000115754 bam 2.8 GB Report
EGAF00000115755 bam 3.2 GB Report
EGAF00000115756 bam 3.7 GB Report
EGAF00000115757 bam 4.7 GB Report
EGAF00000115758 bam 3.9 GB Report
EGAF00000115759 bam 4.0 GB Report
EGAF00000115760 bam 4.3 GB Report
EGAF00000115761 bam 4.0 GB Report
EGAF00000115762 bam 3.8 GB Report
EGAF00000115763 bam 7.0 GB Report
EGAF00000115764 bam 6.3 GB Report
EGAF00000115765 bam 7.0 GB Report
EGAF00000115766 bam 5.9 GB Report
EGAF00000115767 bam 5.8 GB Report
EGAF00000115768 bam 4.7 GB Report
EGAF00000115769 bam 4.4 GB Report
EGAF00000115770 bam 4.6 GB Report
EGAF00000115771 bam 4.5 GB Report
EGAF00000115772 bam 4.3 GB Report
EGAF00000115773 bam 4.9 GB Report
EGAF00000115774 bam 4.9 GB Report
EGAF00000115775 bam 5.0 GB Report
EGAF00000115776 bam 5.1 GB Report
EGAF00000115777 bam 5.9 GB Report
EGAF00000115778 bam 5.8 GB Report
EGAF00000115779 bam 5.7 GB Report
EGAF00000115780 bam 3.1 GB Report
EGAF00000115781 bam 2.3 GB Report
EGAF00000115782 bam 3.1 GB Report
EGAF00000115783 bam 3.3 GB Report
EGAF00000115784 bam 3.3 GB Report
EGAF00000115785 bam 3.5 GB Report
EGAF00000115786 bam 3.3 GB Report
EGAF00000115787 bam 3.3 GB Report
EGAF00000115788 bam 3.8 GB Report
EGAF00000115789 bam 3.8 GB Report
EGAF00000115790 bam 3.9 GB Report
EGAF00000115791 bam 3.9 GB Report
EGAF00000115792 bam 4.1 GB Report
EGAF00000115793 bam 4.0 GB Report
EGAF00000115794 bam 5.9 GB Report
EGAF00000115795 bam 6.1 GB Report
EGAF00000115796 bam 6.9 GB Report
EGAF00000115797 bam 5.9 GB Report
EGAF00000115798 bam 6.9 GB Report
EGAF00000115799 bam 3.1 GB Report
EGAF00000115800 bam 3.3 GB Report
EGAF00000120857 bam 8.2 GB Report
EGAF00000120858 bam 7.9 GB Report
EGAF00000120859 bam 7.5 GB Report
EGAF00000120860 bam 5.6 GB Report
EGAF00000120861 bam 8.1 GB Report
EGAF00000121458 bam 7.3 GB Report
EGAF00000121459 bam 7.1 GB Report
EGAF00000121460 bam 6.7 GB Report
EGAF00000121461 bam 5.0 GB Report
EGAF00000121462 bam 7.3 GB Report
EGAF00000128635 bam 24.5 GB Report
EGAF00000256456 bam 4.7 GB Report
EGAF00000256457 bam 3.7 GB Report
EGAF00000256458 bam 8.5 GB Report
EGAF00000256459 bam 8.5 GB Report
EGAF00000256460 bam 3.6 GB Report
EGAF00000256461 bam 3.3 GB Report
EGAF00000256462 bam 3.4 GB Report
EGAF00000283066 cram 2.4 GB Report
EGAF00000283067 cram 1.8 GB Report
EGAF00000283068 cram 4.2 GB Report
EGAF00000283069 cram 4.2 GB Report
EGAF00000283070 cram 1.8 GB Report
EGAF00000283071 cram 1.7 GB Report
EGAF00000283072 cram 1.7 GB Report
171 Files (839.9 GB)