首页> 外国专利> METHODS AND SYSTEMS FOR SIMULTANEOUS ALLELIC CONTRAST AND COPY NUMBER ASSOCIATION IN GENOME-WIDE ASSOCIATION STUDIES

METHODS AND SYSTEMS FOR SIMULTANEOUS ALLELIC CONTRAST AND COPY NUMBER ASSOCIATION IN GENOME-WIDE ASSOCIATION STUDIES

机译:全基因组关联研究中同时进行别针对比度和拷贝数关联的方法和系统

摘要

Methods and systems are provided for performing allelic copy number association in genome-wide association studies. Also provided are computer-readable media for storing instructions for performing the genomic marker association studies. The methods include performing genomic marker association studies wherein allelic contrast and copy number are analyzed simultaneously, comprising the steps of receiving measurements of intensity for each of two alleles (A and B) in a biological sample set; computing a sum value (S) and a difference value (D) of the intensities; and employing a statistical model to determine a potential association of the S and/or the D value with an outcome, wherein a statistically significant coefficient of the S intensity indicates an association of the copy number with the outcome and a statistically significant coefficient of the D intensity indicates an association of the allelic contrast with the outcome.
机译:提供了用于在全基因组关联研究中进行等位基因拷贝数关联的方法和系统。还提供了用于存储用于执行基因组标记关联研究的指令的计算机可读介质。该方法包括进行基因组标志物关联研究,其中同时分析等位基因对比和拷贝数,包括以下步骤:接收生物样品集中两个等位基因(A和B)各自的强度测量值;计算强度的和值(S)和差值(D);使用统计模型确定S和/或D值与结果的潜在关联,其中S强度的统计学显着系数指示拷贝数与结果和D的统计学显着系数的关联强度表明等位基因对比与结果的关联。

著录项

  • 公开/公告号US2011093209A1

    专利类型

  • 公开/公告日2011-04-21

    原文格式PDF

  • 申请/专利权人 WENDELL JONES;JOEL PARKER;

    申请/专利号US20090990184

  • 发明设计人 WENDELL JONES;JOEL PARKER;

    申请日2009-04-29

  • 分类号G06F17/18;G06F19/00;

  • 国家 US

  • 入库时间 2022-08-21 18:14:11

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