A central limit theorem concerning uncertainty in estimates of individual admixture

Abstract

The concept of individual admixture (IA) assumes that the genome of individuals is composed of alleles inherited from $K$ ancestral populations. Each copy of each allele has the same chance $q_k$ to originate from population $k$, and together with the allele frequencies $p$ in all populations at all $M$ markers, comprises the admixture model. Here, we assume a supervised scheme, i.e.\ allele frequencies $p$ are given through a reference database of size $N$, and $q$ is estimated via maximum likelihood for a single sample. We study laws of large numbers and central limit theorems describing effects of finiteness of both, $M$ and $N$, on the estimate of $q$. We recall results for the effect of finite $M$, and provide a central limit theorem for the effect of finite $N$, introduce a new way to express the uncertainty in estimates in standard barplots, give simulation results, and discuss applications in forensic genetics.

arXiv comment25 pages, 7 figures