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  • 标题:CrypticIBDcheck: an R package for checking cryptic relatedness in nominally unrelated individuals
  • 本地全文:下载
  • 作者:Annick Nembot-Simo ; Jinko Graham ; Brad McNeney
  • 期刊名称:Source Code for Biology and Medicine
  • 印刷版ISSN:1751-0473
  • 电子版ISSN:1751-0473
  • 出版年度:2013
  • 卷号:8
  • 期号:1
  • 页码:5
  • DOI:10.1186/1751-0473-8-5
  • 语种:English
  • 出版社:BioMed Central
  • 摘要:In population association studies, standard methods of statistical inference assume that study subjects are independent samples. In genetic association studies, it is therefore of interest to diagnose undocumented close relationships in nominally unrelated study samples. We describe the R package CrypticIBDcheck to identify pairs of closely-related subjects based on genetic marker data from single-nucleotide polymorphisms (SNPs). The package is able to accommodate SNPs in linkage disequibrium (LD), without the need to thin the markers so that they are approximately independent in the population. Sample pairs are identified by superposing their estimated identity-by-descent (IBD) coefficients on plots of IBD coefficients for pairs of simulated subjects from one of several common close relationships. The methods implemented in CrypticIBDcheck are particularly relevant to candidate-gene association studies, in which dependent SNPs cluster in a relatively small number of genes spread throughout the genome. The accommodation of LD allows the use of all available genetic data, a desirable property when working with a modest number of dependent SNPs within candidate genes. CrypticIBDcheck is available from the Comprehensive R Archive Network (CRAN).
  • 关键词:Cryptic relatedness ; IBD estimation ; Linkage disequilibrium ; Gene drop simulation
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