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Interpreting the pervasive observation of U-shaped Site Frequency Spectra

The standard neutral model of molecular evolution has traditionally been used as the null model for population genomics. We gathered a collection of 45 genome-wide site frequency spectra from a diverse set of species, most of which display an excess of low and high frequency variants compared to the...

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Detalles Bibliográficos
Autores principales: Freund, Fabian, Kerdoncuff, Elise, Matuszewski, Sebastian, Lapierre, Marguerite, Hildebrandt, Marcel, Jensen, Jeffrey D., Ferretti, Luca, Lambert, Amaury, Sackton, Timothy B., Achaz, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072462/
https://www.ncbi.nlm.nih.gov/pubmed/36952570
http://dx.doi.org/10.1371/journal.pgen.1010677
Descripción
Sumario:The standard neutral model of molecular evolution has traditionally been used as the null model for population genomics. We gathered a collection of 45 genome-wide site frequency spectra from a diverse set of species, most of which display an excess of low and high frequency variants compared to the expectation of the standard neutral model, resulting in U-shaped spectra. We show that multiple merger coalescent models often provide a better fit to these observations than the standard Kingman coalescent. Hence, in many circumstances these under-utilized models may serve as the more appropriate reference for genomic analyses. We further discuss the underlying evolutionary processes that may result in the widespread U-shape of frequency spectra.