Impact of exome sequencing in inflammatory bowel disease

被引:0
|
作者
Christopher J Cardinale [1 ]
Judith R Kelsen [2 ]
Robert N Baldassano [2 ]
Hakon Hakonarson [1 ]
机构
[1] Center for Applied Genomics,Children’s Hospital of Philadelphia,Abramson Research Center Suite 1216,Philadelphia,PA 19104,United States
[2] 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
关键词
Sequencing; Exome; Genetics; Inflammatory bowel disease;
D O I
暂无
中图分类号
R574.62 [结肠疾病];
学科分类号
1002 ; 100201 ;
摘要
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.
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收藏
页码:6721 / 6729
页数:9
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