On the quantity and quality of single nucleotide polymorphisms in the human genome. (Q1888745)

The paper is devoted to the investigation of the quantity and quality of single nucleotide polymorphisms (SNPs). They are useful markers for locating genes since they occur throughout the human genome and thousands can be scored at once using DNA microarrays. In this paper, coalescent theory and branching processes are applied to show that using Kruglyak's model of the growth of the human population and assuming an average mutation rate of \(1\times 10^{-8}\) per nucleotide per generation, there are about 5.7 million SNP's in the human genome, or one every 526 base pairs. The assumption of Poisson distribution throughout the paper is needed to keep a close connection of the branching process with the coalescent. As indicated in Section 2, the assumption can be easily dropped, because the answers depend only on the first two moments. The number of SNPs that will be found in samples of size \(n=6\) is presented in details.