The Empirical Distribution of Singletons for Geographic Samples of DNA Sequences.

ABSTRACT: Rare variants are important for drawing inference about past demographic events in a species history. A singleton is a rare variant for which genetic variation is carried by a unique chromosome in a sample. How singletons are distributed across geographic space provides a local measure of genetic diversity that can be measured at the individual level. Here, we define the empirical distribution of singletons in a sample of chromosomes as the proportion of the total number of singletons that each chromosome carries, and we present a theoretical background for studying this distribution. Next, we use computer simulations to evaluate the potential for the empirical distribution of singletons to provide a description of genetic diversity across geographic space. In a Bayesian framework, we show

SUBMITTER: Cubry P 

PROVIDER: S-EPMC5627571 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature