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
- 10/09/2015
- 86 samples
- DAC: EGAC00001000205
- Technology: Illumina HiSeq 2000
Wellcome Trust Sanger Institute Data Sharing Policy
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 |
|---|---|---|
| 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 | Located in | |
|---|---|---|---|---|
| EGAF00000102905 | bam | 6.0 GB | ||
| EGAF00000102906 | bam | 6.4 GB | ||
| EGAF00000102907 | bam | 6.8 GB | ||
| EGAF00000102908 | bam | 7.5 GB | ||
| EGAF00000102909 | bam | 7.3 GB | ||
| EGAF00000102910 | bam | 3.7 GB | ||
| EGAF00000102911 | bam | 4.3 GB | ||
| EGAF00000102912 | bam | 3.9 GB | ||
| EGAF00000102913 | bam | 4.1 GB | ||
| EGAF00000102914 | bam | 4.3 GB | ||
| EGAF00000102915 | bam | 4.3 GB | ||
| EGAF00000102916 | bam | 3.9 GB | ||
| EGAF00000102917 | bam | 4.4 GB | ||
| EGAF00000102918 | bam | 4.2 GB | ||
| EGAF00000102919 | bam | 5.2 GB | ||
| EGAF00000102920 | bam | 4.4 GB | ||
| EGAF00000102921 | bam | 4.5 GB | ||
| EGAF00000102922 | bam | 4.9 GB | ||
| EGAF00000102923 | bam | 4.5 GB | ||
| EGAF00000102924 | bam | 4.2 GB | ||
| EGAF00000102925 | bam | 6.3 GB | ||
| EGAF00000102926 | bam | 5.7 GB | ||
| EGAF00000102927 | bam | 6.3 GB | ||
| EGAF00000102928 | bam | 5.3 GB | ||
| EGAF00000102929 | bam | 5.3 GB | ||
| EGAF00000102930 | bam | 5.7 GB | ||
| EGAF00000102931 | bam | 5.2 GB | ||
| EGAF00000102932 | bam | 5.5 GB | ||
| EGAF00000102933 | bam | 5.4 GB | ||
| EGAF00000102934 | bam | 5.1 GB | ||
| EGAF00000102935 | bam | 5.9 GB | ||
| EGAF00000102936 | bam | 5.4 GB | ||
| EGAF00000102937 | bam | 5.4 GB | ||
| EGAF00000102938 | bam | 5.5 GB | ||
| EGAF00000102939 | bam | 6.5 GB | ||
| EGAF00000102940 | bam | 6.3 GB | ||
| EGAF00000102941 | bam | 6.3 GB | ||
| EGAF00000102942 | bam | 4.2 GB | ||
| EGAF00000102943 | bam | 3.2 GB | ||
| EGAF00000102944 | bam | 4.3 GB | ||
| EGAF00000102945 | bam | 4.6 GB | ||
| EGAF00000102946 | bam | 4.6 GB | ||
| EGAF00000102947 | bam | 4.8 GB | ||
| EGAF00000102948 | bam | 4.5 GB | ||
| EGAF00000102949 | bam | 4.5 GB | ||
| EGAF00000102950 | bam | 4.4 GB | ||
| EGAF00000102951 | bam | 4.4 GB | ||
| EGAF00000102952 | bam | 4.4 GB | ||
| EGAF00000102953 | bam | 4.6 GB | ||
| EGAF00000102954 | bam | 4.5 GB | ||
| EGAF00000102955 | bam | 4.7 GB | ||
| EGAF00000102956 | bam | 4.3 GB | ||
| EGAF00000102957 | bam | 4.6 GB | ||
| EGAF00000102958 | bam | 6.1 GB | ||
| EGAF00000102959 | bam | 6.2 GB | ||
| EGAF00000102960 | bam | 7.0 GB | ||
| EGAF00000102961 | bam | 6.1 GB | ||
| EGAF00000102962 | bam | 7.1 GB | ||
| EGAF00000102963 | bam | 3.7 GB | ||
| EGAF00000102964 | bam | 4.0 GB | ||
| EGAF00000102965 | bam | 4.4 GB | ||
| EGAF00000102966 | bam | 4.5 GB | ||
| EGAF00000102967 | bam | 4.3 GB | ||
| EGAF00000102968 | bam | 4.6 GB | ||
| EGAF00000102969 | bam | 4.4 GB | ||
| EGAF00000102970 | bam | 4.5 GB | ||
| EGAF00000102971 | bam | 4.7 GB | ||
| EGAF00000102972 | bam | 4.6 GB | ||
| EGAF00000102973 | bam | 5.0 GB | ||
| EGAF00000102974 | bam | 5.5 GB | ||
| EGAF00000102975 | bam | 5.2 GB | ||
| EGAF00000102976 | bam | 4.7 GB | ||
| EGAF00000102977 | bam | 4.9 GB | ||
| EGAF00000104511 | bam | 3.8 GB | ||
| EGAF00000104512 | bam | 3.7 GB | ||
| EGAF00000113164 | bam | 3.7 GB | ||
| EGAF00000113165 | bam | 3.8 GB | ||
| EGAF00000113166 | bam | 3.6 GB | ||
| EGAF00000113167 | bam | 3.9 GB | ||
| EGAF00000113168 | bam | 3.6 GB | ||
| EGAF00000113169 | bam | 3.7 GB | ||
| EGAF00000113170 | bam | 4.2 GB | ||
| EGAF00000113171 | bam | 4.1 GB | ||
| EGAF00000113172 | bam | 4.5 GB | ||
| EGAF00000113173 | bam | 5.0 GB | ||
| EGAF00000113174 | bam | 4.7 GB | ||
| EGAF00000113175 | bam | 4.2 GB | ||
| EGAF00000113176 | bam | 4.4 GB | ||
| EGAF00000115743 | bam | 5.4 GB | ||
| EGAF00000115744 | bam | 5.7 GB | ||
| EGAF00000115745 | bam | 6.1 GB | ||
| EGAF00000115746 | bam | 6.7 GB | ||
| EGAF00000115747 | bam | 6.5 GB | ||
| EGAF00000115748 | bam | 2.6 GB | ||
| EGAF00000115749 | bam | 3.1 GB | ||
| EGAF00000115750 | bam | 2.8 GB | ||
| EGAF00000115751 | bam | 3.0 GB | ||
| EGAF00000115752 | bam | 3.1 GB | ||
| EGAF00000115753 | bam | 3.2 GB | ||
| EGAF00000115754 | bam | 2.8 GB | ||
| EGAF00000115755 | bam | 3.2 GB | ||
| EGAF00000115756 | bam | 3.7 GB | ||
| EGAF00000115757 | bam | 4.6 GB | ||
| EGAF00000115758 | bam | 3.9 GB | ||
| EGAF00000115759 | bam | 4.0 GB | ||
| EGAF00000115760 | bam | 4.3 GB | ||
| EGAF00000115761 | bam | 4.0 GB | ||
| EGAF00000115762 | bam | 3.7 GB | ||
| EGAF00000115763 | bam | 7.0 GB | ||
| EGAF00000115764 | bam | 6.2 GB | ||
| EGAF00000115765 | bam | 6.9 GB | ||
| EGAF00000115766 | bam | 5.9 GB | ||
| EGAF00000115767 | bam | 5.8 GB | ||
| EGAF00000115768 | bam | 4.7 GB | ||
| EGAF00000115769 | bam | 4.4 GB | ||
| EGAF00000115770 | bam | 4.6 GB | ||
| EGAF00000115771 | bam | 4.5 GB | ||
| EGAF00000115772 | bam | 4.2 GB | ||
| EGAF00000115773 | bam | 4.9 GB | ||
| EGAF00000115774 | bam | 4.9 GB | ||
| EGAF00000115775 | bam | 5.0 GB | ||
| EGAF00000115776 | bam | 5.1 GB | ||
| EGAF00000115777 | bam | 5.9 GB | ||
| EGAF00000115778 | bam | 5.7 GB | ||
| EGAF00000115779 | bam | 5.7 GB | ||
| EGAF00000115780 | bam | 3.1 GB | ||
| EGAF00000115781 | bam | 2.3 GB | ||
| EGAF00000115782 | bam | 3.1 GB | ||
| EGAF00000115783 | bam | 3.3 GB | ||
| EGAF00000115784 | bam | 3.3 GB | ||
| EGAF00000115785 | bam | 3.4 GB | ||
| EGAF00000115786 | bam | 3.3 GB | ||
| EGAF00000115787 | bam | 3.3 GB | ||
| EGAF00000115788 | bam | 3.8 GB | ||
| EGAF00000115789 | bam | 3.8 GB | ||
| EGAF00000115790 | bam | 3.9 GB | ||
| EGAF00000115791 | bam | 3.9 GB | ||
| EGAF00000115792 | bam | 4.1 GB | ||
| EGAF00000115793 | bam | 4.0 GB | ||
| EGAF00000115794 | bam | 5.9 GB | ||
| EGAF00000115795 | bam | 6.1 GB | ||
| EGAF00000115796 | bam | 6.9 GB | ||
| EGAF00000115797 | bam | 5.9 GB | ||
| EGAF00000115798 | bam | 6.9 GB | ||
| EGAF00000115799 | bam | 3.1 GB | ||
| EGAF00000115800 | bam | 3.3 GB | ||
| EGAF00000120857 | bam | 8.2 GB | ||
| EGAF00000120858 | bam | 7.8 GB | ||
| EGAF00000120859 | bam | 7.5 GB | ||
| EGAF00000120860 | bam | 5.6 GB | ||
| EGAF00000120861 | bam | 8.1 GB | ||
| EGAF00000121458 | bam | 7.3 GB | ||
| EGAF00000121459 | bam | 7.0 GB | ||
| EGAF00000121460 | bam | 6.7 GB | ||
| EGAF00000121461 | bam | 5.0 GB | ||
| EGAF00000121462 | bam | 7.3 GB | ||
| EGAF00000128635 | bam | 24.5 GB | ||
| EGAF00000256456 | bam | 4.7 GB | ||
| EGAF00000256457 | bam | 3.7 GB | ||
| EGAF00000256458 | bam | 8.5 GB | ||
| EGAF00000256459 | bam | 8.5 GB | ||
| EGAF00000256460 | bam | 3.6 GB | ||
| EGAF00000256461 | bam | 3.3 GB | ||
| EGAF00000256462 | bam | 3.3 GB | ||
| EGAF00000283066 | cram | 2.4 GB | ||
| EGAF00000283067 | cram | 1.8 GB | ||
| EGAF00000283068 | cram | 4.2 GB | ||
| EGAF00000283069 | cram | 4.2 GB | ||
| EGAF00000283070 | cram | 1.8 GB | ||
| EGAF00000283071 | cram | 1.7 GB | ||
| EGAF00000283072 | cram | 1.7 GB | ||
| 171 Files (838.2 GB) | ||||