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.

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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. Click on one of the Study IDs below to find out more.

Study ID Study Title Study Type
EGAS00001000388 Other
ID File Type Size Located in Quality Control
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
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