Illumina HiSeq 2000;
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.