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Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation

BACKGROUND: The Approximate Bayesian Computation (ABC) approach has been used to infer demographic parameters for numerous species, including humans. However, most applications of ABC still use limited amounts of data, from a small number of loci, compared to the large amount of genome-wide populati...

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Autores principales: Li, Sen, Jakobsson, Mattias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368717/
https://www.ncbi.nlm.nih.gov/pubmed/22453034
http://dx.doi.org/10.1186/1471-2156-13-22
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author Li, Sen
Jakobsson, Mattias
author_facet Li, Sen
Jakobsson, Mattias
author_sort Li, Sen
collection PubMed
description BACKGROUND: The Approximate Bayesian Computation (ABC) approach has been used to infer demographic parameters for numerous species, including humans. However, most applications of ABC still use limited amounts of data, from a small number of loci, compared to the large amount of genome-wide population-genetic data which have become available in the last few years. RESULTS: We evaluated the performance of the ABC approach for three 'population divergence' models - similar to the 'isolation with migration' model - when the data consists of several hundred thousand SNPs typed for multiple individuals by simulating data from known demographic models. The ABC approach was used to infer demographic parameters of interest and we compared the inferred values to the true parameter values that was used to generate hypothetical "observed" data. For all three case models, the ABC approach inferred most demographic parameters quite well with narrow credible intervals, for example, population divergence times and past population sizes, but some parameters were more difficult to infer, such as population sizes at present and migration rates. We compared the ability of different summary statistics to infer demographic parameters, including haplotype and LD based statistics, and found that the accuracy of the parameter estimates can be improved by combining summary statistics that capture different parts of information in the data. Furthermore, our results suggest that poor choices of prior distributions can in some circumstances be detected using ABC. Finally, increasing the amount of data beyond some hundred loci will substantially improve the accuracy of many parameter estimates using ABC. CONCLUSIONS: We conclude that the ABC approach can accommodate realistic genome-wide population genetic data, which may be difficult to analyze with full likelihood approaches, and that the ABC can provide accurate and precise inference of demographic parameters from these data, suggesting that the ABC approach will be a useful tool for analyzing large genome-wide datasets.
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spelling pubmed-33687172012-06-07 Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation Li, Sen Jakobsson, Mattias BMC Genet Research Article BACKGROUND: The Approximate Bayesian Computation (ABC) approach has been used to infer demographic parameters for numerous species, including humans. However, most applications of ABC still use limited amounts of data, from a small number of loci, compared to the large amount of genome-wide population-genetic data which have become available in the last few years. RESULTS: We evaluated the performance of the ABC approach for three 'population divergence' models - similar to the 'isolation with migration' model - when the data consists of several hundred thousand SNPs typed for multiple individuals by simulating data from known demographic models. The ABC approach was used to infer demographic parameters of interest and we compared the inferred values to the true parameter values that was used to generate hypothetical "observed" data. For all three case models, the ABC approach inferred most demographic parameters quite well with narrow credible intervals, for example, population divergence times and past population sizes, but some parameters were more difficult to infer, such as population sizes at present and migration rates. We compared the ability of different summary statistics to infer demographic parameters, including haplotype and LD based statistics, and found that the accuracy of the parameter estimates can be improved by combining summary statistics that capture different parts of information in the data. Furthermore, our results suggest that poor choices of prior distributions can in some circumstances be detected using ABC. Finally, increasing the amount of data beyond some hundred loci will substantially improve the accuracy of many parameter estimates using ABC. CONCLUSIONS: We conclude that the ABC approach can accommodate realistic genome-wide population genetic data, which may be difficult to analyze with full likelihood approaches, and that the ABC can provide accurate and precise inference of demographic parameters from these data, suggesting that the ABC approach will be a useful tool for analyzing large genome-wide datasets. BioMed Central 2012-03-27 /pmc/articles/PMC3368717/ /pubmed/22453034 http://dx.doi.org/10.1186/1471-2156-13-22 Text en Copyright ©2012 Li and Jakobsson; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Li, Sen
Jakobsson, Mattias
Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
title Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
title_full Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
title_fullStr Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
title_full_unstemmed Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
title_short Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
title_sort estimating demographic parameters from large-scale population genomic data using approximate bayesian computation
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368717/
https://www.ncbi.nlm.nih.gov/pubmed/22453034
http://dx.doi.org/10.1186/1471-2156-13-22
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