Whole exome sequencing of young onset Primary Sclerosing Cholangitis

Dataset ID Technology Samples
EGAD00001000671 Illumina HiSeq 2000 5

Dataset Description

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.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Contact person: Carl Anderson
Email: ca3 [at] sanger [dot] ac [dot] uk
More details: EGAC00001000112


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