Method for detecting mononucleotide polymorphism

Abstract

The invention is applicable to the field of biological engineering and provides a method for detecting mononucleotide polymorphism. The method comprises the following steps: sequencing fragments obtained by high throughput sequencing technology are compared on a referenced genome sequence; the likelihood ratio of various genotypes of the corresponding sites on the genome to be tested is obtained according to the sequencing mass fraction of each basic group in the genome to be tested and obtained by sequencing; the posterior probability of each genotype of each site on the referenced genome is calculated according to the likelihood ratio and the prior probability preset for each genotype, and the genotype which has the highest posterior probability is determined as the most likely right genotype of the corresponding sites on the genome to be tested to obtain the consistent sequence of the genome to be tested; and the sites of the genome to be tested, which are inconsistent with the sequence of the referenced genome in the consistent sequence are detected to obtain the polymorphism sites of the genome to be tested. The embodiment of the invention can achieve a more accurate test result as the influence of the prior probability on mononucleotide polymorphism test result is considered in advance.

Description

Technical field [0001] The invention belongs to the field of bioengineering, and particularly relates to a single nucleotide polymorphism detection method and system. Background technique [0002] Single Nucleotide Polymorphism (Single Nucleotide Polymorphism, SNP) refers to the polymorphism of the nucleic acid sequence caused by the change of a single nucleotide base. In the nucleotide sequence of the same chromosome or the same site in different individuals, the phenomenon that most of the nucleotide sequence is the same but only one base is different is SNP. Because SNPs are in the human genome in large numbers and occur frequently, they are considered to be the next generation of genetic markers after microsatellites. They are used in medical genetics, pharmacogenetics, disease genetics, disease diagnostics, and human evolution. And other research fields have high research value and application prospects. [0003] For more than 20 years, Sanger sequencing and fluorescence ele...

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Problems solved by technology

[0006] The purpose of the present invention is to provide a single nucleotide polymorphism detection method, aiming to solve the problem that the existing single nucleotide polymorphism detection method is difficult to meet the requirements of high-throughput sequencing technology

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