A General Framework for Neutrality Tests Based on the Site Frequency Spectrum

One of the main necessities for population geneticists is the availability of sensitive statistical tools that enable to accept or reject the standard Wright-Fisher model of neutral evolution. A number of statistical tests have been developed to detect specific deviations from the null frequency spe...

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Detalles Bibliográficos
Autores: Ramos Onsins, Sebastián Ernesto|||0000-0002-1776-140X, Marmorini, Giacomo|||0000-0003-3492-276X, Achaz, Guillaume|||0000-0003-4514-5935, Ferretti, Luca
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:296870
Acceso en línea:https://ddd.uab.cat/record/296870
https://dx.doi.org/urn:doi:10.3390/genes14091714
Access Level:acceso abierto
Palabra clave:Coalescent theory
Site frequency spectrum
Neutrality test
Statistical power
Summary statistics
Descripción
Sumario:One of the main necessities for population geneticists is the availability of sensitive statistical tools that enable to accept or reject the standard Wright-Fisher model of neutral evolution. A number of statistical tests have been developed to detect specific deviations from the null frequency spectrum in different directions (e.g., Tajima's D, Fu and Li's F and D tests, Fay and Wu's H). A general framework exists to generate all neutrality tests that are linear functions of the frequency spectrum. In this framework, it is possible to develop a family of optimal tests with almost maximum power against a specific alternative evolutionary scenario. In this paper we provide a thorough discussion of the structure and properties of linear and nonlinear neutrality tests. First, we present the general framework for linear tests and emphasise the importance of the property of scalability with the sample size (that is, the interpretation of the tests should not depend on the sample size), which, if missing, can lead to errors in interpreting the data. After summarising the motivation and structure of linear optimal tests, we present a more general framework for the optimisation of linear tests, leading to a new family of tunable neutrality tests. In a further generalisation, we extend the framework to nonlinear neutrality tests and we derive nonlinear optimal tests for polynomials of any degree in the frequency spectrum.