Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
作者: Guo ChengPatrick Ho-Yu ChungEdwin Kin-Wai ChanMan-Ting SoPak-Chung ShamStacey S. ChernyPaul Kwong-Hang TamMaria-Mercè Garcia-Barceló
作者单位: 11/F Hong Kong Jockey Club Building for Interdisciplinary Research
2the Chinese University of Hong Kong
3The University of Hong Kong
4Center for Genomic Sciences
5Growth of the Li Ka Shing Faculty of Medicine
刊名: BMC Medical Genomics, 2017, Vol.10 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12920-017-0259-0
关键词: Copy number variantRare complex diseaseGenotype-phenotype correlationNetwork
原始语种摘要: Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering the BA phenotypic variance is a priority in clinics and can be achieved by the integrative analysis of genotype and phenotype. We aim to explore the BA phenotypic features and to delineate the source of its variance.
全文获取路径: Springer Nature  (合作)
影响因子:3.466 (2012)

  • variance 离散
  • analysis 分析
  • phenotype 表型
  • variable 变量
  • complex 超群
  • management 管理
  • correlation 对比
  • atresia 闭锁
  • genotype 属型
  • delineate 描绘