公开(公告)号：US07424368B2

公开(公告)日：2008-09-09

申请号：US10712616

申请日：2003-11-12

申请人： Jing Huang ,  Keith W Jones ,  Michael H. Shapero

发明人： Jing Huang ,  Keith W Jones ,  Michael H. Shapero

IPC分类号： G06F19/00 ,  G01N33/48

CPC分类号： G06F19/20 ,  C12Q1/6827 ,  C12Q1/6837 ,  G06F19/18 ,  C12Q2545/101

摘要： Methods of estimating genomic DNA copy number are disclosed. Amplified genomic DNA is hybridized to an array of allele specific SNP probes to generate a hybridization pattern. A value, S, is calculated for individual SNPs in the experimental sample, where S is the log of the arithmetic average of the intensities of the perfect match probes for the SNP. S is calculated for the SNP in reference samples that are matched to the experimental sample in genotype. The mean and standard deviation for the S values of the reference samples are calculated and a log intensity difference is calculated by subtracting the mean values for the reference and experimental samples. The copy number of the SNP region is estimated using the difference between the mean for the SNP in the reference samples and the S value for the SNP in the experimental sample in a log-log linear model.

摘要翻译： 公开了估计基因组DNA拷贝数的方法。 扩增的基因组DNA与等位基因特异性SNP探针的阵列杂交以产生杂交模式。 对于实验样品中的单个SNP计算值S，其中S是SNP完美匹配探针的强度的算术平均值的对数。 对于与基因型实验样品匹配的参考样品中的SNP计算S。 计算参考样品的S值的平均值和标准偏差，并通过减去参考和实验样品的平均值计算对数强度差。 使用对数线性模型中的参考样本中的SNP的平均值与实验样品中的SNP的S值之间的差来估计SNP区域的拷贝数。