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Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease

Author

Listed:
  • Svetlana Frenkel
  • Charles N Bernstein
  • Michael Sargent
  • Qin Kuang
  • Wenxin Jiang
  • John Wei
  • Bhooma Thiruvahindrapuram
  • Elizabeth Spriggs
  • Stephen W Scherer
  • Pingzhao Hu

Abstract

Background: Inflammatory bowel disease (IBD) is an idiopathic, chronic disorder of unclear etiology with an underlying genetic predisposition. Recent genome-wide association studies have identified more than 200 IBD susceptibility loci, but the causes of IBD remain poorly defined. We hypothesized that rare (

Suggested Citation

  • Svetlana Frenkel & Charles N Bernstein & Michael Sargent & Qin Kuang & Wenxin Jiang & John Wei & Bhooma Thiruvahindrapuram & Elizabeth Spriggs & Stephen W Scherer & Pingzhao Hu, 2019. "Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease," PLOS ONE, Public Library of Science, vol. 14(6), pages 1-16, June.
    • Handle: RePEc:plo:pone00:0217846
    DOI: 10.1371/journal.pone.0217846
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    References listed on IDEAS

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    1. Dalila Pinto & Alistair T. Pagnamenta & Lambertus Klei & Richard Anney & Daniele Merico & Regina Regan & Judith Conroy & Tiago R. Magalhaes & Catarina Correia & Brett S. Abrahams & Joana Almeida & Ele, 2010. "Functional impact of global rare copy number variation in autism spectrum disorders," Nature, Nature, vol. 466(7304), pages 368-372, July.
    2. Maryam Oskoui & Matthew J. Gazzellone & Bhooma Thiruvahindrapuram & Mehdi Zarrei & John Andersen & John Wei & Zhuozhi Wang & Richard F. Wintle & Christian R. Marshall & Ronald D. Cohn & Rosanna Weksbe, 2015. "Clinically relevant copy number variations detected in cerebral palsy," Nature Communications, Nature, vol. 6(1), pages 1-7, November.
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