• 主题
高级搜索  >
历史搜索 清空历史
首页> 美国卫生研究院文献>Genetics >Association Test Algorithm Between a Qualitative Phenotype and a Haplotype or Haplotype Set Using Simultaneous Estimation of Haplotype Frequencies Diplotype Configurations and Diplotype-Based Penetrances
【2h】

Association Test Algorithm Between a Qualitative Phenotype and a Haplotype or Haplotype Set Using Simultaneous Estimation of Haplotype Frequencies Diplotype Configurations and Diplotype-Based Penetrances

机译：定性表型与单倍型或单倍型集之间的关联测试算法使用单倍型频率双倍型构型和基于双倍型性能的同时估计

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Analysis of the association between haplotypes and phenotypes is becoming increasingly important. We have devised an expectation-maximization (EM)-based algorithm to test the association between a phenotype and a haplotype or a haplotype set and to estimate diplotype-based penetrance using individual genotype and phenotype data from cohort studies and clinical trials. The algorithm estimates, in addition to haplotype frequencies, penetrances for subjects with a given haplotype and those without it (dominant mode). Relative risk can thus also be estimated. In the dominant mode, the maximum likelihood under the assumption of no association between the phenotype and presence of the haplotype (L0max) and the maximum likelihood under the assumption of association (Lmax) were calculated. The statistic −2 log(L0max/Lmax) was used to test the association. The present algorithm along with the analyses in recessive and genotype modes was implemented in the computer program PENHAPLO. Results of analysis of simulated data indicated that the test had considerable power under certain conditions. Analyses of two real data sets from cohort studies, one concerning the MTHFR gene and the other the NAT2 gene, revealed significant associations between the presence of haplotypes and occurrence of side effects. Our algorithm may be especially useful for analyzing data concerning the association between genetic information and individual responses to drugs.
机译：单倍型和表型之间的关联的分析变得越来越重要。我们设计了一种基于期望最大化（EM）的算法，以测试表型与单倍型或单倍型集之间的关联，并使用来自队列研究和临床试验的个体基因型和表型数据估算基于双倍型的外显率。除单倍型频率外，该算法还估计具有给定单倍型和没有单倍型的受试者的显着性（显性模式）。因此也可以估计相对风险。在显性模式下，计算在表型与单倍型存在之间没有关联的假设下的最大可能性（L0max）和在关联假设下的最大可能性（Lmax）。统计量-2 log（L0max / Lmax）用于测试关联。本算法以及隐性和基因型模式的分析在计算机程序PENHAPLO中实现。对模拟数据的分析结果表明，该测试在某些条件下具有相当大的功效。对来自队列研究的两个真实数据集的分析，一个涉及MTHFR基因，另一个涉及NAT2基因，揭示了单倍型存在与副作用发生之间的显着关联。我们的算法对于分析有关遗传信息与药物个体反应之间关联的数据可能特别有用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号