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Updated: Aug 24, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Times on trees, and the age of an allele
1Department of Statistics, University of Oxford, Oxford, United Kingdom. stephens@stats.ox.ac.uk
Abstract:
In this paper we consider the genealogy of a random sample of n chromosomes from a panmictic population which has evolved with constant size N over many generations. We address two related problems. First we describe how genealogical information may be usefully partitioned into information on the events (mutations and coalescences) which occur in the genealogy, and the times between these events. We show that the distribution of the times given information on the events is particularly simple and describe how this can considerably reduce the computational burden when performing inference for these times. Second we investigate the effect on the genealogy of conditioning on a single mutation having occurred during the ancestry of the sample. In particular we use results from the first part of the paper to derive explicit formulae for the density of the age of a mutant allele, conditional on its frequency in either a sample or the population.
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