{"title":"A central limit theorem concerning uncertainty in estimates of individual admixture","authors":"Peter Pfaffelhuber, Angelika Rohde","doi":"10.1016/j.tpb.2022.09.003","DOIUrl":null,"url":null,"abstract":"<div><p>The concept of individual admixture (IA) assumes that the genome of individuals is composed of alleles inherited from <span><math><mi>K</mi></math></span> ancestral populations. Each copy of each allele has the same chance <span><math><msub><mrow><mi>q</mi></mrow><mrow><mi>k</mi></mrow></msub></math></span> to originate from population <span><math><mi>k</mi></math></span>, and together with the allele frequencies <span><math><mi>p</mi></math></span> in all populations at all <span><math><mi>M</mi></math></span> markers, comprises the admixture model. Here, we assume a supervised scheme, i.e. allele frequencies <span><math><mi>p</mi></math></span> are given through a reference database of size <span><math><mi>N</mi></math></span>, and <span><math><mi>q</mi></math></span> 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, <span><math><mi>M</mi></math></span> and <span><math><mi>N</mi></math></span>, on the estimate of <span><math><mi>q</mi></math></span>. We recall results for the effect of finite <span><math><mi>M</mi></math></span>, and provide a central limit theorem for the effect of finite <span><math><mi>N</mi></math></span>, introduce a new way to express the uncertainty in estimates in standard barplots, give simulation results, and discuss applications in forensic genetics.</p></div>","PeriodicalId":49437,"journal":{"name":"Theoretical Population Biology","volume":"148 ","pages":"Pages 28-39"},"PeriodicalIF":1.2000,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Theoretical Population Biology","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0040580922000661","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The concept of individual admixture (IA) assumes that the genome of individuals is composed of alleles inherited from ancestral populations. Each copy of each allele has the same chance to originate from population , and together with the allele frequencies in all populations at all markers, comprises the admixture model. Here, we assume a supervised scheme, i.e. allele frequencies are given through a reference database of size , and 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, and , on the estimate of . We recall results for the effect of finite , and provide a central limit theorem for the effect of finite , introduce a new way to express the uncertainty in estimates in standard barplots, give simulation results, and discuss applications in forensic genetics.
期刊介绍:
An interdisciplinary journal, Theoretical Population Biology presents articles on theoretical aspects of the biology of populations, particularly in the areas of demography, ecology, epidemiology, evolution, and genetics. Emphasis is on the development of mathematical theory and models that enhance the understanding of biological phenomena.
Articles highlight the motivation and significance of the work for advancing progress in biology, relying on a substantial mathematical effort to obtain biological insight. The journal also presents empirical results and computational and statistical methods directly impinging on theoretical problems in population biology.