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World J Gastroenterol. Oct 28, 2013; 19(40): 6721-6729
Published online Oct 28, 2013. doi: 10.3748/wjg.v19.i40.6721
Impact of exome sequencing in inflammatory bowel disease
Christopher J Cardinale, Judith R Kelsen, Robert N Baldassano, Hakon Hakonarson
Christopher J Cardinale, Hakon Hakonarson, Center for Applied Genomics, Children’s Hospital of Philadelphia, Abramson Research Center Suite 1216, Philadelphia, PA 19104, United States
Judith R Kelsen, Robert N Baldassano, Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States
Author contributions: Cardinale CJ, Kelsen JR, Baldassano RN, Hakonarson H wrote and edited the manuscript.
Supported by A Senior Research Award from the Crohn’s to Cardinale CJ; Colitis Foundation of America to Hakonarson H; and a special purpose fund from the Edmunds Family Foundation for Ulcerative Colitis Studies to Baldassano RN
Correspondence to: Hakon Hakonarson, MD, PhD, Director, Center for Applied Genomics, Children’s Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States. hakonarson@chop.edu
Telephone: +1-267-4266047 Fax: +1-267-4260363
Received: August 11, 2013
Revised: September 11, 2013
Accepted: September 16, 2013
Published online: October 28, 2013
Core Tip

Core tip: The genetic understanding of inflammatory bowel disease (IBD) has progressed over the last twenty years as new technologies and analytic techniques have become available. The nascent revolution in next-generation sequencing will enable us to sequence the exome - all the protein coding genes in the genome - in thousands of individuals. This review discusses the implications of this new approach for diagnosis in very early onset IBD and as a tool to gain understanding of the hereditary basis of the common polygenic form of the disease at the population level.