biostudies-literatureUnknown62(7)Christodoulou K<h4>Background</h4>Multiple genes have been implicated by association studies in altering inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition plays a more substantial role in this group.<h4>Objective</h4>To identify the spectrum of rare and novel variation in known IBD susceptibility genes using exome sequencing analysis in eight individual cases of childhood onset severe disease.<h4>Design</h4>DNA samples from the eight patients underwent targeted exome capture and sequencing. Data were processed through an analytical pipeline to align sequence reads, conduct quality checks, and identify and annotate variants where patient sequence differed from the refGut977-84https://www.ebi.ac.uk/biostudies/studies/S-EPMC3686259biostudies-literatureNext generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.PMC3686259Collins AEnnis SUpstill-Goddard RTapper WChristodoulou KGibson JWillis CAfzal NAHolloway JWSimpson MABeattie RMWiskin AEfalseNext generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.<h4>Background</h4>Multiple genes have been implicated by association studies in altering inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition plays a more substantial role in this group.<h4>Objective</h4>To identify the spectrum of rare and novel variation in known IBD susceptibility genes using exome sequencing analysis in eight individual cases of childhood onset severe disease.<h4>Design</h4>DNA samples from the eight patients underwent targeted exome capture and sequencing. Data were processed through an analytical pipeline to align sequence reads, conduct quality checks, and identify and annotate variants where patient sequence differed from the ref2013-01-01T00:00:00Z2013 Jul2026-05-30T00:59:48.728Z2019-03-27T01:11:50ZS-EPMC36862592254315710.1136/gutjnl-2011-301833