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MULTI-ALLELIC GENOTYPING OF SINGLE NUCLEOTIDE POLYMORPHISMS AND INDEL MUTATIONS

机译:单个核苷酸多态性和代号突变的多等位基因分型

摘要

FIELD: biotechnology; medicine.;SUBSTANCE: invention refers to biotechnology and molecular biology. Disclosed is a method for genotyping of one or more multi-allele markers, involving obtaining signals of one or more multi-allele markers in one or more samples, followed by clustering signals for each pair of alleles, recording signals of one or more alternative alleles to calculate a background signal for one or more alleles, to obtain a plurality of background signals, each of which represents the corresponding allele, assigning the initial value of the genotype of each sample for each pair of alleles based on the signals and background signals, calculating multidimensional normal distribution for each cluster, for each multidimensional normal distribution of each cluster, calculating the logarithmic likelihood of belonging to each sample, based on the logarithmic likelihood of membership, calculating, for each sample, the probability of belonging to each cluster, assigning the final value of the genotype to each sample based on the membership probability.;EFFECT: method can be used in genetics and medicine.;11 cl, 16 dwg, 1 tbl
机译:领域:生物技术;药物:发明是指生物技术和分子生物学。公开了一种用于对一个或多个多等位基因标志物进行基因分型的方法,包括获得一个或多个样品中一个或多个多等位基因标志物的信号,然后将每对等位基因的信号聚类,记录一个或多个替代等位基因的信号计算一个或多个等位基因的背景信号,以获得多个背景信号,每个背景信号代表相应的等位基因,并根据信号和背景信号为每对等位基因分配每个样品的基因型初始值,计算每个聚类的多维正态分布,针对每个聚类的每个多维正态分布,基于隶属度的对数似然,计算属于每个样本的对数似然,为每个样本计算属于每个聚类的概率,分配基于隶属度概率的每个样本的基因型最终值。效果:可以使用方法在遗传学和医学领域; 11 cl,16 dwg,1 tbl

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