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

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  • Durrett, Richard
  • Limic, Vlada

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 1x10-8 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.

Suggested Citation

  • Durrett, Richard & Limic, Vlada, 2001. "On the quantity and quality of single nucleotide polymorphisms in the human genome," Stochastic Processes and their Applications, Elsevier, vol. 93(1), pages 1-24, May.
    • Handle: RePEc:eee:spapps:v:93:y:2001:i:1:p:1-24
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    1. Joyce, Paul & Tavaré, Simon, 1987. "Cycles, permutations and the structure of the yule process with immigration," Stochastic Processes and their Applications, Elsevier, vol. 25, pages 309-314.
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    Cited by:

    1. Spouge, John L., 2019. "An accurate approximation for the expected site frequency spectrum in a Galton–Watson process under an infinite sites mutation model," Theoretical Population Biology, Elsevier, vol. 127(C), pages 7-15.

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