Article
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
Gastroenterology - 1 Mar 2022
Bolton Chrissy, Smillie Christopher S, Pandey Sumeet, Elmentaite Rasa, Wei Gabrielle, Argmann Carmen, Aschenbrenner Dominik, James Kylie R, McGovern Dermot P B, Macchi Marina, Cho Judy, Shouval Dror S, Kammermeier Jochen, Koletzko Sibylle, Bagalopal Krithika, Capitani Melania, Cavounidis Athena, Pires Elisabete, Weidinger Carl, McCullagh James, Arkwright Peter D, Haller Wolfram, Siegmund Britta, Peters Lauren, Jostins Luke, Travis Simon P L, Anderson Carl A, Snapper Scott, Klein Christoph, Schadt Eric, Zilbauer Matthias, Xavier Ramnik, Teichmann Sarah, Muise Aleixo M, Regev Aviv, Uhlig Holm H
Abstract excerpt
BACKGROUND & AIMS: Monogenic forms of inflammatory bowel disease (IBD) illustrate the essential roles of individual genes in pathways and networks safeguarding immune tolerance and gut homeostasis. METHODS: To build a taxonomy model, we assessed 165 disorders. Genes were prioritized based on penetrance of IBD and disease phenotypes were integrated with multi-omics datasets. Monogenic IBD genes were classified by...
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