Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.

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ID: 291016
1995
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Abstract
Molecular techniques allow the survey of a large number of linked polymorphic loci in random samples from diploid populations. However, the gametic phase of haplotypes is usually unknown when diploid individuals are heterozygous at more than one locus. To overcome this difficulty, we implement an expectation-maximization (EM) algorithm leading to maximum-likelihood estimates of molecular haplotype frequencies under the assumption of Hardy-Weinberg proportions. The performance of the algorithm is evaluated for simulated data representing both DNA sequences and highly polymorphic loci with different levels of recombination. As expected, the EM algorithm is found to perform best for large samples, regardless of recombination rates among loci. To ensure finding the global maximum likelihood estimate, the EM algorithm should be started from several initial conditions. The present approach appears to be useful for the analysis of nuclear DNA sequences or highly variable loci. Although the algorithm, in principle, can accommodate an arbitrary number of loci, there are practical limitations because the computing time grows exponentially with the number of polymorphic loci. Although the algorithm, in principle, can accommodate an arbitrary number of loci, there are practical limitations because the computing time grows exponentially with the number of polymorphic loci.
Reference Key
openalex_W1891283710 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Laurent Excoffier, Montgomery Slatkin
Journal molecular biology and evolution
Year 1995
DOI
10.1093/oxfordjournals.molbev.a040269
URL
Keywords Keywords not found

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