Limit theorems for the site frequency spectrum of neutral mutations in an exponentially growing population
Fuente:
arXiv
Guardado en:
| Autores principales: | , , |
|---|---|
| Formato: | Preprint |
| Publicado: |
2023
|
| Materias: | |
| Acceso en línea: | |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| _version_ | 1866911793129979904 |
|---|---|
| author | Gunnarsson, Einar Bjarki Leder, Kevin Zhang, Xuanming |
| author_facet | Gunnarsson, Einar Bjarki Leder, Kevin Zhang, Xuanming |
| contents | The site frequency spectrum (SFS) is a widely used summary statistic of genomic data. Motivated by recent evidence for the role of neutral evolution in cancer, we investigate the SFS of neutral mutations in an exponentially growing population. Using branching process techniques, we establish (first-order) almost sure convergence results for the SFS of a Galton-Watson process, evaluated either at a fixed time or at the stochastic time at which the population first reaches a certain size. We finally use our results to construct consistent estimators for the extinction probability and the effective mutation rate of a birth-death process. |
| format | Preprint |
| id |
arxiv_https___arxiv_org_abs_2307_03346 |
| institution | arXiv |
| publishDate | 2023 |
| record_format | arxiv |
| spellingShingle | Limit theorems for the site frequency spectrum of neutral mutations in an exponentially growing population Gunnarsson, Einar Bjarki Leder, Kevin Zhang, Xuanming Probability Populations and Evolution 60J85, 60F15, 92D25, 92B05 The site frequency spectrum (SFS) is a widely used summary statistic of genomic data. Motivated by recent evidence for the role of neutral evolution in cancer, we investigate the SFS of neutral mutations in an exponentially growing population. Using branching process techniques, we establish (first-order) almost sure convergence results for the SFS of a Galton-Watson process, evaluated either at a fixed time or at the stochastic time at which the population first reaches a certain size. We finally use our results to construct consistent estimators for the extinction probability and the effective mutation rate of a birth-death process. |
| title | Limit theorems for the site frequency spectrum of neutral mutations in an exponentially growing population |
| topic | Probability Populations and Evolution 60J85, 60F15, 92D25, 92B05 |
| url | https://arxiv.org/abs/2307.03346 |