The sampling distribution of disease-associated alleles.

@article{Slatkin1997TheSD,
  title={The sampling distribution of disease-associated alleles.},
  author={Montgomery Slatkin and Bruce Rannala},
  journal={Genetics},
  year={1997},
  volume={147 4},
  pages={1855-61}
}
A theory is developed that provides the sampling distribution of low frequency alleles at a single locus under the assumption that each allele is the result of a unique mutation. The numbers of copies of each allele is assumed to follow a linear birth-death process with sampling. If the population is of constant size, standard results from theory of birth-death processes show that the distribution of numbers of copies of each allele is logarithmic and that the joint distribution of numbers of… CONTINUE READING