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Analyzing SNPs in Human Genome Under Changing Population Sizes

Investigating SNP distribution and marker density in the public human genome data under a model of recombination and population size change. Exploring differential demographic history in major world populations and revealing significant population-specific differences through mathematical formulation.

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Analyzing SNPs in Human Genome Under Changing Population Sizes

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  1. Incorporating changing population size into the coalescent

  2. Computation of SNPs in the public human genome data • SNPs - Heritable &variable landmarks useful as markers in human genome (disease mapping, population structure). • Overlaps of large-insert genome clones - nearly 500,000 SNPs present. • Studied distribution of marker density observed at different overlap length scales under a model of recombination and population size change. • History of population sequence - bottleneck pattern.

  3. Population Density Distribution in Different Epochs

  4. Modeling Marker Density Distributions

  5. Differential demographic history in three large world populations. Studied the SNP allele frequency in different populations. Derived a (simple), closed mathematical formulation. These results when used in model fitting experiments revealed significant population-specific difference. European and Asian - bottleneck-shaped history. 5. African-American - moderate but uninterrupted population expansion.

  6. Folded spectra under stationary History, at various sample sizes Allele Frequency Spectra predicted under competing scenarios of population history.

  7. Model Fitting to folded AFS in Different Population Groups European Asian African - American

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