The Allele Frequency Spectrum in Genome-Wide Human Variation Data Reveals Signals of Differential Demographic History in Three World Populations Gabor T. Marth, Eva Czabarka, Janos Murvai and Stephen T. Sherry. Genetics (2004)

Allele Frequency Creation of a simple, closed mathematical formulation for the spectrum of expected allele frequencies in 3 nonstationary populations A profile of demographic history using multi-epoch approach with piecewise constnat effective pop. Size Advantage- very rapid generation of AFS under a large number of competing histories Circumvention

Model fitting to observed allele frequency spectra Producing an equivalent distribution of allele frequencies at a lower sample size

European spectra As generations mutations Bottleneck-shaped history Distribution of mutation times (1000x) As generations mutations Bottleneck-shaped history Observed allelil frequency

Conclusion This allele frequency spectrum is an excellent source for modeling demographic history Independent of recombination and local variation in SNP rates Requires measurements at allelic states only Circumvent traditional problems