title: Impact of exome sequencing in inflammatory bowel disease.
abstract: Approaches to understanding the genetic contribution to inflammatory bowel disease (IBD) have continuously evolved from family- and population-based epidemiology, to linkage analysis, and most recently, to genome-wide association studies (GWAS). The next stage in this evolution seems to be the sequencing of the exome, that is, the regions of the human genome which encode proteins. The GWAS approach has been very fruitful in identifying at least 163 loci as being associated with IBD, and now, exome sequencing promises to take our genetic understanding to the next level. In this review we will discuss the possible contributions that can be made by an exome sequencing approach both at the individual patient level to aid with disease diagnosis and future therapies, as well as in advancing knowledge of the pathogenesis of IBD.
authors.affiliation: Christopher J Cardinale, Hakon Hakonarson, Center for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, Philadelphia, PA 19104, United States.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Cardinale
authors.forename: Judith R
authors.initials: JR
authors.lastname: Kelsen
authors.forename: Robert N
authors.initials: RN
authors.lastname: Baldassano
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
mesh_terms: D000818:Animals; D059472:Exome; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D040941:Heredity; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors; D017422:Sequence Analysis, DNA
keywords: Exome; Genetics; Inflammatory bowel disease; Sequencing