Open AccessA Coalescent Model of Ancestry for a Rare Allele
Author(s) -
Jinko Graham,
E. A. Thompson
Publication year - 2000
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1093/genetics/156.1.375
Subject(s) - coalescent theory , biology , genetics , allele , population , mutation , linkage disequilibrium , mutation rate , allele frequency , evolutionary biology , effective population size , haplotype , genetic variation , demography , gene , phylogenetics , sociology
In disequilibrium mapping from data on a rare allele, interest may focus on the ancestry of a random sample of current descendants of a mutation. The mutation is assumed to have been introduced into the population as a single copy a known time ago and to have reached a given copy number within the population. Theory has been developed to describe the ancestral distribution under arbitrary patterns of population expansion. Further results permit convenient realization of the ancestry for a random sample of copies of a rare allele within populations of constant size or within populations growing or shrinking at constant exponential rate. In this article, we present an efficient approximate method for realizing coalescence times under more general patterns of population growth. We also apply diagnostics, checking the age of the mutation. In the course of the derivation, some additional insight is gained into the dynamics of the descendants of the mutation.