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Maximum-Likelihood Estimation of Site-Specific Mutation Rates in Human Mitochondrial DNA From Partial Phylogenetic Classification

Article from: Genetics Article date: November 01, 2008 Author: Rosset, Saharon; Wells, R Spencer; Soria-Hernanz, David F; Tyler-Smith, Chris; Royyuru, Ajay K; Behar, Doron M

ABSTRACT

The mitochondrial DNA hypervariable segment I (HVS-I) is widely used in studies of human evolutionary genetics, and therefore accurate estimates of mutation rates among nucleotide sites in this region are essential. We have developed a novel maximum-likelihood methodology for esti mating site-specific mutation rates from partial phylogenetic information, such as haplogroup association. The resulting estimation problem is a generalized linear model,with a nonstandard link function. We develop inference and bias correction tools for our estimates and a hypothesis-testing approach for ...

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