Reconstituting the Frequency Spectrum of Ascertained Single-Nucleotide Polymorphism Data

摘要: Most of the available SNP data have eluded valid population genetic analysis because most genetical methods do not correctly accommodate special discovery process used to identify SNPs. allele frequency distributions that are biased by ascertainment protocol. We here show how this problem can be corrected obtaining maximum-likelihood estimates true distribution. In simple cases, ML estimate distribution obtained analytically, but in other cases computational based on numerical optimization or EM algorithm must used. illustrate new correction method analyzing some previously published from Consortium. Appropriate treatment is vital our ability make correct inferences International HapMap Project.