Research And Application Of Association Between SNP And Disease

Single nucleotide polymorphisms(SNP)refers to the polymorphism caused by the variation of a single nucleotide(A,T,C,G)in the genome.It is widely distributed in the human genome and carries the genetic information molecules of DNA.It is the most basic unit of genetic variation.Several studies have shown that many common diseases,such as Diabetes,Myocardial Infarction and Alzheimer's disease,are related to SNP.Therefore,the study on the correlation between SNP and diseases can help people further explore the internal mechanism of diseases and assist doctors to diagnose and treat patients in advance.Based on the SNP data,this paper conducted an in-depth study on the SNP pathogenic cause detection algorithms and the SNP pathogenic cause and disease association model establishment methods,then established an association model between the SNP pathogenic cause and diseases,reasonably quantified the relationship between them,and applied the model to the auxiliary diagnosis of the disease Specifically,the main work and achievements of this paper are as follows:1.In the stage of performance comparison of existing SNP pathogenic cause detection algorithms,an algorithm performance evaluation measure,namely detection ability,which takes the integrity and accuracy of detection results as the main goal,was proposed,and the corresponding performance comparison of various existing SNP pathogenic cause detection algorithms was carried out.Experimental results show that this evaluation measure can select the relatively complete and accurate SNP pathogenic cause detection algorithm from many algorithms.2.In the modeling stage of SNP pathogenic cause and disease association,the DTEM algorithm was proposed,and the initial association model between SNP pathogenic causes and disease was established.Aiming at the problem that N pathogenic causes cross each other affect the result,the concept of Absolute Division was introduced,and the AD-DTEM algorithm was proposed to optimize the initial association model.The experimental results show that the association model between SNP pathogenic causes and disease established by DTEM algorithm can reflect the general trend of SNP affecting disease.The association model between SNP pathogenic causes and disease established by improved AD-DTEM algorithm has higher accuracy,and can more truly reflect the SNP on the influence degree of the disease.3.In the research application stage,the association model of SNP pathogenic cause and disease association established before was applied to the auxiliary diagnosis of disease.In the specific diagnosis process,three disease diagnosis strategies were proposed to diagnose new unknown samples: simple diagnostic strategies,cost-sensitive diagnostic strategies,and probability-based diagnostic strategies.Independent diagnostic experiments and joint diagnostic experiments were designed and completed for each diagnostic strategy.The experimental results show that compared with the traditional simple classification-based disease diagnosis method,the method based on SNP pathogenic cause and disease association model for disease diagnosis can achieve higher diagnostic accuracy.