EGAGenomicsIllumina HiSeq 2000Otherhttps://ega-archive.org/studies/EGAS00001000228EGAEGA study EGAS00001000228Whole-exome sequencing of rare autoimmune-related phenotypesEGArestrictedWES, Complete Transcriptome, Exome Sequencing, Whole Exome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Complete Exome, Whole, Complete Exome Sequencing, Whole Transcriptome Sequencing, Whole Exome Sequencing, Exome, Phenotypes., Whole Transcriptome, Transcriptome Sequencing, rare (European definition), Transcriptome Sequencings, SequencingDNA (cytosine-5)-methyltransferase 1, Forms, heredity., whole exome, Disease, Unspecified disorder of immune mechanism, DNS, Bowel Diseases, HSN1E, (Deoxyribonucleotide)n, DNAn+1, not elsewhere classified, AUTOIMMUNE DISEASE NEC, DNMT, Autoimmune Disease, Double-Stranded, MCMT, Inflammatory Bowel Disease, Deoxyribonucleic acids, unspecified (disorder), disease or disorder of immune system, Other specified disorders of the immune mechanism (disorder), (Deoxyribonucleotide)n+m, Aim, AIM, unspecified, Other specified disorders involving the immune mechanism, Immunodeficiency and Immunosuppression Disorders, Deoxyribonucleic Acid, DNA methyltransferase HsaI, inflammatory bowel disease, Diseases, Inflammatory bowel disease, sequence, IMMUNE MECHANISM DIS NOS, rare (European definition), ds-DNA, desoxyribose nucleic acid, Disorder of the immune mechanism NOS (disorder), Autoimmune, CXXC9, immune system disease or disorder, DNMT1, ADCADN, DEFIC CELL IMMUNITY NOS, immune system disorder, thymus nucleic acid, Other deficiency of cell-mediated immunity, Deficiency of cell-mediated immunity, UNQ203/PRO229, CT-2, Autoimmune disease, DNMT1_HUMAN, IBD, IMMUNDEF T-CELL DEF NOS, DNA (cytosine-5-)-methyltransferase 1, Disorders involving the immune mechanism, [X]Disorder involving the immune mechanism, Exomes, Immune System and Related Disorders, Double Stranded, INFLAMM BOWEL DIS, Deoxyribonucleic acid, disease of immune system, immune disorder, CXXC-type zinc finger protein 9, primary structure of sequence macromolecule, disorder of immune system, autoimmune diseases, immune dysfunction, immune disease, API6, Phenotypes, Inflammatory Bowel Diseases, ds DNA, psychogenic IBS, Desoxyribonukleinsaeure, Other specified disorders of the immune mechanism, autoimmune bowel disorder, Double-Stranded DNA, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, DNAn, Inflammatory, IMMUNE MECHANISM DIS NEC, CXXC finger protein 9, CLEC2C, Severe, m.HsaI, DNA MTase HsaI, Immunodeficiency with predominant T-cell defect, Disorder of the immune mechanism NOSfalseWhole exome sequencing of rare autoimmune related phenotypesWe aim to whole-exome sequence DNA samples from 75 individuals with severe forms of Inflammatory Bowel Disease and related autoimmune diseases to identify the rare, highly penetrant, variants that we believe underlie these phenotypes. Case samples will be obtained from both new and existing (UK IBD Genetics Consortium) collaborators to ensure only the most extreme cases are sequenced.2017-07-26 15:39:25EGAS000010002289606EGAD00001000408EGAC00001000205