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

Publication ,  Journal Article
Durrett, R; Limic, V
Published in: Stochastic Processes and their Applications
May 1, 2001

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≥2 to gain insight into the number that will be found by various experimental procedures. © 2001 Elsevier Science B.V.

Duke Scholars

Published In

Stochastic Processes and their Applications

DOI

ISSN

0304-4149

Publication Date

May 1, 2001

Volume

93

Issue

1

Start / End Page

1 / 24

Related Subject Headings

  • Statistics & Probability
  • 4905 Statistics
  • 4901 Applied mathematics
  • 1502 Banking, Finance and Investment
  • 0104 Statistics
  • 0102 Applied Mathematics
 

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Durrett, R., & Limic, V. (2001). On the quantity and quality of single nucleotide polymorphisms in the human genome. Stochastic Processes and Their Applications, 93(1), 1–24. https://doi.org/10.1016/S0304-4149(00)00090-9
Durrett, R., and V. Limic. “On the quantity and quality of single nucleotide polymorphisms in the human genome.” Stochastic Processes and Their Applications 93, no. 1 (May 1, 2001): 1–24. https://doi.org/10.1016/S0304-4149(00)00090-9.
Durrett R, Limic V. On the quantity and quality of single nucleotide polymorphisms in the human genome. Stochastic Processes and their Applications. 2001 May 1;93(1):1–24.
Durrett, R., and V. Limic. “On the quantity and quality of single nucleotide polymorphisms in the human genome.” Stochastic Processes and Their Applications, vol. 93, no. 1, May 2001, pp. 1–24. Scopus, doi:10.1016/S0304-4149(00)00090-9.
Durrett R, Limic V. On the quantity and quality of single nucleotide polymorphisms in the human genome. Stochastic Processes and their Applications. 2001 May 1;93(1):1–24.
Journal cover image

Published In

Stochastic Processes and their Applications

DOI

ISSN

0304-4149

Publication Date

May 1, 2001

Volume

93

Issue

1

Start / End Page

1 / 24

Related Subject Headings

  • Statistics & Probability
  • 4905 Statistics
  • 4901 Applied mathematics
  • 1502 Banking, Finance and Investment
  • 0104 Statistics
  • 0102 Applied Mathematics