title: Statistical tests of the coalescent model based on the haplotype frequency distribution and the number of segregating sites.
abstract: Several tests of neutral evolution employ the observed number of segregating sites and properties of the haplotype frequency distribution as summary statistics and use simulations to obtain rejection probabilities. Here we develop a "haplotype configuration test" of neutrality (HCT) based on the full haplotype frequency distribution. To enable exact computation of rejection probabilities for small samples, we derive a recursion under the standard coalescent model for the joint distribution of the haplotype frequencies and the number of segregating sites. For larger samples, we consider simulation-based approaches. The utility of the HCT is demonstrated in simulations of alternative models and in application to data from Drosophila melanogaster.
authors.affiliation: Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, 77030, USA.
authors.forename: Hideki
authors.initials: H
authors.lastname: Innan
authors.forename: Kangyu
authors.initials: K
authors.lastname: Zhang
authors.forename: Paul
authors.initials: P
authors.lastname: Marjoram
authors.forename: Simon
authors.initials: S
authors.lastname: Tavaré
authors.forename: Noah A
authors.initials: NA
authors.lastname: Rosenberg
mesh_terms: D020090:Chromosome Segregation; D003198:Computer Simulation; D019143:Evolution, Molecular; D005787:Gene Frequency; D006239:Haplotypes; D008957:Models, Genetic; D015233:Models, Statistical; D009154:Mutation; D011995:Recombination, Genetic