EGAGenomicsIllumina HiSeq 2000Otherhttps://ega-archive.org/studies/EGAS00001000388EGAEGA study EGAS00001000388Whole exome sequencing of young onset Primary Sclerosing CholangitisEGArestrictedSclerosing, Cholangitides, WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Primary sclerosing cholangitis, Complete Exome, Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, Primary Sclerosing, Age of onset, Primary, Age symptoms begin, Sequencing, Cholangiitis, primary sclerosing cholangitis (PSC), Exome Sequencing, Primary Sclerosing., Whole Exome, Sclerosing Cholangitis, Cholangitis, Primary Sclerosing Cholangitides, Cholangiitides, Whole, cholangitis, Whole Exome Sequencing, fibrosing cholangitis, Sclerosing Cholangiitides, sclerosing cholangitis (disease), Whole Transcriptome, Transcriptome Sequencing, Sclerosing Cholangitides, sclerosing, sclerosing cholangitis, Transcriptome Sequencings, Primary Sclerosing Cholangitis, primary sclerosing cholangitis, Sclerosing CholangiitisAutoimmunity, Autoimmune disorder, Prevalence, whole exome, Disease, Age at Onset, Liver, DNS, (Deoxyribonucleotide)n, Liver Transplant, Period Prevalence, Age-at-Onset, RnBP, Grafting, DNAn+1, frequency, Transplant, Liver Grafting, Autoimmune Disease, Phenotypes., GlcNAc 2-epimerase, Period Prevalences, Double-Stranded, autoimmune hypersensitivity disease, Deoxyribonucleic acids, jecur, (Deoxyribonucleotide)n+m, Mutations, Point Prevalence, N-acetyl-D-glucosamine 2-epimerase, Period, Deoxyribonucleic Acid, RENBP, Point Prevalences, Diseases, hypersensitivity reaction type II disease, autoimmunity, University, rare (European definition), ds-DNA, desoxyribose nucleic acid, Autoimmune, Liver Transplants, outbreaks, Autoimmune condition, susceptibility, thymus nucleic acid, Autoimmune disease, Transplantation, Prevalences, occurrence, Hepatic Transplantations, prevalence, Exomes, iecur, Age of onset, Double Stranded, Onset Age, Deoxyribonucleic acid, Age symptoms begin, surveillance, Children, morbidity, endemics, AGE, Livers, Point, ds DNA, Desoxyribonukleinsaeure, Hepatic Transplantation, renin-binding protein, Hepatic, epidemics, Double-Stranded DNA, Liver Transplantations, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, DNAn, Severe, incidencefalseWhole exome sequencing of young onset Primary Sclerosing CholangitisPrimary 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.2017-07-26 15:39:25EGAS000010003889606EGAD00001000671EGAC00001000112