Statistical Analysis on the Big Experimental SNP Data

In this book, we carried out research work to explore the statistical properties of experimental SNP data using the autosomal DNA variation data from the 1000 Genomes Project, which is the most comprehensive large-scale genome-wide polymorphism data. We classified the SNPs into different types based on the frequency of their minor alleles in the sample. The results show that the relationship between the number of different types of SNPs and the frequency of their minor alleles in the sample are very similar to the theoretical inferences and can be expressed by a power function. In human populations, the effective population size is usually not constant, and many assumptions, such as random mating and non-overlapping generations etc which are assumed under neutrality, are unlikely true strictly, but it has been generally found that major characteristics of polymorphism agree well with the predictions of neutrality.