Whole exome sequencing of young onset Primary Sclerosing Cholangitis
Primary sclerosing chloangitis is a rare autoimmune disease of the liver (prevalence =10/100,000) with a mean age of onset of 40 years. We are currently undertaking GWASand immunochip experiments to identify loci underlying PSC susceptibility. Through ourcollaborators at the University of Calgary we have access to DNA from three parent-offspringtrios where the children required liver transplants due to PSC before the age of 9. These areextremely rare cases indeed and we believe that exome-sequencing represents a powerfulmeans of identifying the causal mutation underlying this severe phenotype.
- 27/05/2015
- 5 samples
- DAC: EGAC00001000112
- Technology: Illumina HiSeq 2000
Wellcome Trust Sanger Institute Data Sharing Policy
The data will be submitted to EGA and are accessible under managed data access.https://www.sanger.ac.uk/datasharing/
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 |
|---|---|---|
| EGAS00001000388 | 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 | |
|---|---|---|---|---|
| EGAF00000249078 | bam | 5.9 GB | ||
| EGAF00000249079 | bam | 6.5 GB | ||
| EGAF00000249080 | bam | 6.7 GB | ||
| EGAF00000249081 | bam | 6.3 GB | ||
| EGAF00000249082 | bam | 6.6 GB | ||
| EGAF00000251401 | bam | 6.2 GB | ||
| EGAF00000251402 | bam | 6.8 GB | ||
| EGAF00000251403 | bam | 6.9 GB | ||
| EGAF00000251404 | bam | 6.6 GB | ||
| EGAF00000251405 | bam | 6.8 GB | ||
| 10 Files (65.3 GB) | ||||