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Autozygosity pilot - QMUL

The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consists of low coverage whole exome sequencing on these samples.

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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
EGAS00001000717 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
EGAF00000581900 cram 2.4 GB
EGAF00000581901 cram 2.4 GB
EGAF00000581902 cram 2.3 GB
EGAF00000581903 cram 2.3 GB
EGAF00000581904 cram 2.2 GB
EGAF00000581905 cram 2.3 GB
EGAF00000581906 cram 2.1 GB
EGAF00000581907 cram 2.5 GB
EGAF00000581908 cram 2.1 GB
EGAF00000581909 cram 2.2 GB
EGAF00000581910 cram 2.3 GB
EGAF00000581911 cram 2.2 GB
EGAF00000581912 cram 2.4 GB
EGAF00000581913 cram 2.3 GB
EGAF00000581914 cram 2.1 GB
EGAF00000581915 cram 2.2 GB
EGAF00000581916 cram 2.5 GB
EGAF00000581917 cram 2.7 GB
EGAF00000581918 cram 2.7 GB
EGAF00000581919 cram 2.8 GB
EGAF00000581920 cram 2.8 GB
EGAF00000581921 cram 2.8 GB
EGAF00000581922 cram 2.5 GB
EGAF00000581923 cram 2.9 GB
EGAF00000581924 cram 2.8 GB
EGAF00000581925 cram 2.7 GB
EGAF00000581926 cram 2.9 GB
EGAF00000581927 cram 3.0 GB
EGAF00000581928 cram 3.0 GB
EGAF00000581929 cram 2.9 GB
EGAF00000581930 cram 2.6 GB
EGAF00000581931 cram 2.6 GB
EGAF00000581932 cram 2.4 GB
EGAF00000581933 cram 2.5 GB
EGAF00000581934 cram 2.6 GB
EGAF00000581935 cram 2.7 GB
EGAF00000581936 cram 2.8 GB
EGAF00000612737 cram 2.0 GB
EGAF00000612738 cram 1.9 GB
EGAF00000612739 cram 2.0 GB
EGAF00000612740 cram 2.0 GB
EGAF00000612741 cram 2.1 GB
EGAF00000612742 cram 2.1 GB
EGAF00000612743 cram 2.4 GB
EGAF00000612744 cram 2.5 GB
EGAF00000612745 cram 2.0 GB
EGAF00000612746 cram 2.2 GB
EGAF00000612747 cram 2.1 GB
EGAF00000612748 cram 2.2 GB
EGAF00000612749 cram 2.3 GB
EGAF00000612750 cram 2.2 GB
EGAF00000612751 cram 2.1 GB
EGAF00000612752 cram 2.2 GB
EGAF00000612753 cram 2.2 GB
EGAF00000612754 cram 2.1 GB
EGAF00000612755 cram 2.1 GB
EGAF00000612756 cram 2.1 GB
EGAF00000612758 cram 2.1 GB
EGAF00000612759 cram 1.9 GB
EGAF00000612760 cram 2.0 GB
EGAF00000612761 cram 2.0 GB
EGAF00000612762 cram 1.8 GB
EGAF00000612763 cram 1.8 GB
EGAF00000612764 cram 1.8 GB
EGAF00000612765 cram 3.2 GB
EGAF00000612766 cram 2.6 GB
EGAF00000612767 cram 3.1 GB
EGAF00000612768 cram 2.2 GB
EGAF00000612769 cram 1.9 GB
EGAF00000612770 cram 2.3 GB
EGAF00000612771 cram 2.2 GB
EGAF00000612772 cram 2.3 GB
EGAF00000612773 cram 2.5 GB
EGAF00000612774 cram 2.0 GB
EGAF00000612775 cram 1.8 GB
EGAF00000612776 cram 2.1 GB
EGAF00000612777 cram 2.2 GB
EGAF00000612778 cram 2.8 GB
EGAF00000612779 cram 2.4 GB
EGAF00000612780 cram 2.3 GB
EGAF00000612781 cram 2.5 GB
EGAF00000612782 cram 2.6 GB
EGAF00000612783 cram 2.5 GB
EGAF00000612784 cram 2.6 GB
EGAF00000612785 cram 2.7 GB
EGAF00000612786 cram 2.5 GB
EGAF00000612800 cram 2.3 GB
EGAF00000612801 cram 2.2 GB
EGAF00000612802 cram 2.1 GB
EGAF00000612803 cram 2.4 GB
EGAF00000612804 cram 2.3 GB
EGAF00000612805 cram 2.6 GB
EGAF00000612806 cram 2.3 GB
EGAF00000612807 cram 2.5 GB
EGAF00000612808 cram 2.4 GB
EGAF00000612809 cram 2.3 GB
EGAF00000612810 cram 2.3 GB
EGAF00000612811 cram 2.1 GB
EGAF00000612812 cram 2.3 GB
EGAF00000612813 cram 2.3 GB
EGAF00000612814 cram 2.3 GB
EGAF00000612815 cram 2.2 GB
EGAF00000612816 cram 2.1 GB
EGAF00000612817 cram 2.2 GB
EGAF00000612818 cram 2.3 GB
EGAF00000612819 cram 2.4 GB
EGAF00000612820 cram 2.1 GB
EGAF00000613037 cram 2.5 GB
EGAF00000613038 cram 2.7 GB
EGAF00000613039 cram 2.7 GB
EGAF00000613040 cram 2.7 GB
EGAF00000613041 cram 2.7 GB
EGAF00000613042 cram 2.5 GB
EGAF00000613043 cram 2.7 GB
EGAF00000613044 cram 2.2 GB
EGAF00000613045 cram 2.4 GB
EGAF00000613046 cram 2.4 GB
EGAF00000613047 cram 2.3 GB
EGAF00000613048 cram 2.4 GB
EGAF00000613049 cram 2.1 GB
EGAF00000613050 cram 2.4 GB
EGAF00000613051 cram 2.3 GB
EGAF00000613052 cram 2.0 GB
EGAF00000613053 cram 2.4 GB
EGAF00000613054 cram 2.5 GB
EGAF00000613055 cram 2.5 GB
EGAF00000613056 cram 2.5 GB
EGAF00000613057 cram 2.4 GB
EGAF00000613058 cram 2.4 GB
EGAF00000613059 cram 2.5 GB
130 Files (307.5 GB)