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)
- 27/05/2015
- 24 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 |
|---|---|---|
| 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) | ||||