On the association analysis of CNV data: a fast and robust family-based association method
作者: Meiling LiuSanghoon MoonLongfei WangSulgi KimYeon-Jung KimMi Yeong HwangYoung Jin KimRobert C. ElstonBong-Jo KimSungho Won
作者单位: 1Chung-Ang University
2Iowa State University
3Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health
4Seoul National University
5Naver Labs, 235 Pangyoyeok-ro, Bundang-gu, Seongnam-si
6Case Western Reserve University
刊名: BMC Bioinformatics, 2017, Vol.18 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12859-017-1622-z
关键词: CNVAssociation analysisScore testHematocrit
原始语种摘要: Copy number variation (CNV) is known to play an important role in the genetics of complex diseases and several methods have been proposed to detect association of CNV with phenotypes of interest. Statistical methods for CNV association analysis can be categorized into two different strategies. First, the copy number is estimated by maximum likelihood and association of the expected copy number with the phenotype is tested. Second, the observed probe intensity measurements can be directly used to detect association of CNV with the phenotypes of interest.
全文获取路径: Springer Nature  (合作)
影响因子:3.024 (2012)

  • association 联合
  • analysis 分析
  • family 
  • observed 观察到的
  • detect 探测
  • several 各自
  • likelihood 似然
  • known 己知
  • tested 已试验的
  • number 号码