Radboud Repository

      View Item 
      •   Radboud Repository
      • Collections Radboud University
      • Datasets
      • View Item
      •   Radboud Repository
      • Collections Radboud University
      • Datasets
      • View Item
      JavaScript is disabled for your browser. Some features of this site may not work without it.
      BrowseAll of RepositoryCollectionsDepartmentsDate IssuedAuthorsTitlesDocument typeThis CollectionDepartmentsDate IssuedAuthorsTitlesDocument type
      StatisticsView Item Statistics

      Dataset Exome chip association study in the etiology of anorectal malformations

      Find Full text
      Creators
      Putte, R. van de
      Wijers, C.H.W.
      Rooij, I.A.L.M. van
      Roeleveld, N.
      Reutter, H.
      Vermeulen, H.H.M.
      Galesloot, T.E.
      Kiemeney, L.A.L.M.
      Date of Archiving
      2019
      Archive
      DANS EASY
      DOI
      https://doi.org/10.17026/dans-xgx-ks48
      Related publications
      Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations  
      Publication type
      Dataset
      Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/201916   https://hdl.handle.net/2066/201916
      Display more detailsDisplay less details
      Organization
      Health Evidence
      Human Genetics
      Urology
      Audience(s)
      Life sciences, medicine and health care
      Languages used
      English
      Key words
      Imperforate anus; Illumina HumanExome Beadchip array; technical error; rare variants; genetic etiology
      Abstract
      This dataset belongs to the publication "Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations", published in PLOS ONE in 2019 by van de Putte et al. This dataset was used to evaluate the contribution of rare and low-frequency coding variants in ARM etiology. We analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina HumanExome Beadchip array, which contains >240,000 rare and low-frequency coding variants. We restricted our analyses to variants with a MAF cut-off at 0.4% to reduce potential false-positives and to have sufficient power to possibly replicate a statistically significantly associated variant. For more information regarding this study, we would like to refer to the original publication. The dataset contains all relevant information to be able to replicate the findings described in the paper. We have shared the genotyping information (obtained with the Illumina Human Exome Beadchip array) after quality control, of the single variant analyses restricted to a MAF value of ≥0.4%. The analyses described in the publication with a MAF restricted to ≥1.0% can also be performed using this data. In addition, case-control status and sex are present in the datafiles. To be able to replicate the analyses, a bed, fam, and bim file are shared to analyse the data in the genetic software PLINK (which was also used in our study).
      This item appears in the following Collection(s)
      • Datasets [1485]
      • Faculty of Medical Sciences [87728]
       
      •  Upload Full Text
      •  Terms of Use
      •  Notice and Takedown
      Bookmark and Share
      Admin login