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Congenital Heart Disease in UK Families

This project aims to identify highly penetrant coding variants increasing the risk of Congenital Heart Disease (CHD) performing whole exome sequencing on DNA samples from 23 affected individuals, selected from 10 families with presumed Autosomal Recessive Inheritance. This is a collaboration with Prof. Eamonn Maher and Dr. Chirag Patel from the Department of Medical and Molecular Genetics, University of Birmingham plans to sequence 23 indexed Agilent whole exome pulldown libraries on 75Bp PE HiSeq (Illumina)

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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
EGAS00001000066 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
EGAF00000079056 bam 7.5 GB
EGAF00000079057 bam 7.4 GB
EGAF00000079058 bam 6.7 GB
EGAF00000079059 bam 6.4 GB
EGAF00000079060 bam 7.4 GB
EGAF00000079061 bam 7.5 GB
EGAF00000079062 bam 7.0 GB
EGAF00000079063 bam 7.2 GB
EGAF00000079064 bam 12.6 GB
EGAF00000079065 bam 8.9 GB
EGAF00000079066 bam 9.0 GB
EGAF00000079067 bam 12.4 GB
EGAF00000079068 bam 12.5 GB
EGAF00000079069 bam 11.8 GB
EGAF00000079070 bam 11.1 GB
EGAF00000079071 bam 10.9 GB
EGAF00000079072 bam 12.4 GB
EGAF00000079073 bam 11.7 GB
EGAF00000079074 bam 10.8 GB
EGAF00000080979 bam 16.5 GB
EGAF00000082372 bam 6.9 GB
EGAF00000082373 bam 6.8 GB
EGAF00000082374 bam 8.3 GB
EGAF00000082375 bam 7.3 GB
24 Files (227.0 GB)