DAC Accession Contact Person Email Access Information
EGAC00001000112 Carl Anderson ca3@sanger.ac.uk http://www.ebi.ac.uk/ega/dacs/EGAC00001000112

This DAC controls 1 datasets:

Dataset Accessionsort descending Technology Samples Description
EGAD00001000671 Illumina HiSeq 2000; 5 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 GWAS and immunochip experiments to identify loci underlying PSC susceptibility. Through our collaborators at the University of Calgary we have access to DNA from three parent-offspring trios where the children required liver transplants due to PSC before the age of 9. These are extremely rare cases indeed and we believe that exome-sequencing represents a powerful means of identifying the causal mutation underlying this severe phenotype.

DAC description