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On the quantity and quality of single nucleotide polymorphisms in the human genome

Stochastic Processes and their Applications, 93(1): 1--24, 2001.
Authors: Richard Durrett and Vlada Limic
URL: http://www.sciencedirect.com/science/article/B6V1B-42NRCTD-1/1/3b00b6dacccc8b20ec0193ee05ccb5e4
Description: ScienceDirect - Stochastic Processes and their Applications : On the quantity and quality of single nucleotide polymorphisms in the human genome
Tags: SNP branching_processes human_genome
Abstract: Single nucleotide polymorphisms (SNPs) are useful markers for locating genes since they occur throughout the human genome and thousands can be scored at once using DNA microarrays. Here, we use branching processes and coalescent theory to show that if one uses Kruglyak's (Nature Gen. 12 (1999) 139-144) model of the growth of the human population and one assumes an average mutation rate of 1�10-8 per nucleotide per generation then there are about 5.7 million SNP's in the human genome, or one every 526 base pairs. We also obtain results for the number of SNPs that will be found in samples of sizes n[greater-or-equal, slanted]2 to gain insight into the number that will be found by various experimental procedures.
| URL | BibTeX  
@article{durrett_limic_01,
title = {On the quantity and quality of single nucleotide polymorphisms in the human genome},
author = {Richard Durrett and Vlada Limic},
journal = {Stochastic Processes and their Applications},
month = {#may#},
number = {1},
pages = {1--24},
url = {http://www.sciencedirect.com/science/article/B6V1B-42NRCTD-1/1/3b00b6dacccc8b20ec0193ee05ccb5e4},
volume = {93},
year = {2001},
description = {ScienceDirect - Stochastic Processes and their Applications : On the quantity and quality of single nucleotide polymorphisms in the human genome},
abstract = {Single nucleotide polymorphisms (SNPs) are useful markers for locating genes since they occur throughout the human genome and thousands can be scored at once using DNA microarrays. Here, we use branching processes and coalescent theory to show that if one uses Kruglyak's (Nature Gen. 12 (1999) 139-144) model of the growth of the human population and one assumes an average mutation rate of 1�10-8 per nucleotide per generation then there are about 5.7 million SNP's in the human genome, or one every 526 base pairs. We also obtain results for the number of SNPs that will be found in samples of sizes n[greater-or-equal, slanted]2 to gain insight into the number that will be found by various experimental procedures.},
keywords = {SNP branching_processes human_genome }
}