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A Proposal for Improvement of Genotyping Performance for Ethnically Homogeneous Population Using DNA Microarray

机译:使用DNA微阵列改善种族均质群体的基因分型性能的提案

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DNA microarray is used to determine the genotypes of several hundred thousand to several million SNPs (Single Nucleotide Polymorphisms) on multiple samples at a time. In the conventional method of genotyping using DNA microarray, it is assumed that each SNP has three types of genotypes: two homozygous and one heterozygous genotypes. However, in an ethnically homogeneous population, there are cases when all the samples of a SNP belong to one homozygous genotype, and there are some other cases, especially in the SNPs of low MAFs (Minor Allele Frequencies), each sample belongs to either of the two genotypes: one homozygous and one heterozygous genotypes. In those cases, the conventional method of genotyping may fail to properly determine the genotypes of the samples. In this paper, we propose a new genotyping method, which can be used as a post-processing technique of the conventional genotyping method, for re-judgment of the SNPs having one or two types of genotypes. The proposed method takes fluctuations of the fluorescence intensities of the signals of DNA microarray into account, assigns genotypes to samples from those genotype patterns that may occur under natural mating conditions and applies different genotype judgment methods depending on the number of genotype clusters of a SNP. We evaluate our proposed method using the data of 1000 Genome Project and have found that our proposed method is able to improve the genotyping performance of the conventional method.
机译:DNA微阵列用于确定在时间的几十万到几百万个SNP(单核苷酸多态性),对多个样本的基因型。在使用DNA微阵列基因分型的常规方法中,假定每个SNP有三种基因型:2个纯合和杂合的一个基因型。然而,在一个种族同质群体,存在这样的情况,当所有属于一个纯合基因型的一个SNP的样本,并有一些其他情况下,特别是在低的MAF(次要等位基因频率)的SNP,每个样品属于任一两个基因型:纯合子一个,一个杂合基因型。在这些情况下,基因分型的常规方法可能无法正确地确定样品的基因型。在本文中,我们提出了一种新的基因分型方法,该方法可被用作传统的基因分型方法的后处理技术,具有一个或两个类型的基因型的SNP的重新判断。所提出的方法采用DNA微阵列的信号的荧光强度的波动考虑在内,受让人基因型从自然交配的条件下可能发生的那些基因型模式的样品和施加取决于SNP的基因型的簇的数目不同基因型的判断方法。我们用千人基因组计划的数据评估我们提出的方法和发现,我们所提出的方法能够提高常规方法的基因分型的性能。

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