Neural posterior estimation for population genetics

Simulation-based inference methods are increasingly being used in population genetics due to their flexibility and ability to be applied in settings where likelihood-based methods are intractable. Perhaps the best known such method is Approximate Bayesian Computation (ABC); however, its popularity is offset by its shortcomings which include computational expense and an unfortunate inability to fit models to high-dimensional summaries of the data. An alternative approach that solves these issues is supervised machine learning (ML); however, ML methods generally do not yield Bayesian uncertainty estimates of the quantities they predict. Here, we apply a recently introduced method, neural posterior estimation (NPE), that combines the best facets of ABC and supervised ML by training a neural network to estimate the posterior distribution of a population genetics model. We first compare neural posterior estimation with other inference methods for a variety of population genetic tasks, and show that neural posterior estimators yield posterior distributions with high accuracy and efficiency. We compare learned posterior distributions given raw genotypes and various summary statistics as input data. Additionally, we apply neural posterior estimation for demographic inference for simple and more complex models to highlight its application. Finally, we provide a user friendly workflow that enables others to perform neural posterior estimation to their own genetic data.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2025-12-02
DOI
https://doi.org/10.64898/2025.12.01.691638
Citations
2
Primary Topic
Markov Chains and Monte Carlo Methods
Type
article
Field-Weighted Citation Impact
5.26
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article

Neural posterior estimation for population genetics

Andrew D. Kern, Yue Ning, Jiseon Min, Franz Baumdicker et al.
2 citations
bioRxiv (Cold Spring Harbor Laboratory)
Markov Chains and Monte Carlo Methods
5.26
article

Neural posterior estimation for population genetics

Andrew D. Kern, Yue Ning, Jiseon Min, Franz Baumdicker, Nathaniel S. Pope
article en
2 citations

Abstract

Simulation-based inference methods are increasingly being used in population genetics due to their flexibility and ability to be applied in settings where likelihood-based methods are intractable. Perhaps the best known such method is Approximate Bayesian Computation (ABC); however, its popularity is offset by its shortcomings which include computational expense and an unfortunate inability to fit models to high-dimensional summaries of the data. An alternative approach that solves these issues is supervised machine learning (ML); however, ML methods generally do not yield Bayesian uncertainty estimates of the quantities they predict. Here, we apply a recently introduced method, neural posterior estimation (NPE), that combines the best facets of ABC and supervised ML by training a neural network to estimate the posterior distribution of a population genetics model. We first compare neural posterior estimation with other inference methods for a variety of population genetic tasks, and show that neural posterior estimators yield posterior distributions with high accuracy and efficiency. We compare learned posterior distributions given raw genotypes and various summary statistics as input data. Additionally, we apply neural posterior estimation for demographic inference for simple and more complex models to highlight its application. Finally, we provide a user friendly workflow that enables others to perform neural posterior estimation to their own genetic data.

bioRxiv (Cold Spring Harbor Laboratory)
University of Oregon (US), Justus-Liebig-Universität Gießen (DE), University of Tübingen (DE)
Openalex Percentile: Top 4%
Markov Chains and Monte Carlo Methods
5.26
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Neural posterior estimation for population genetics — Andrew D. Kern, Yue Ning, et al. · bioRxiv (Cold Spring Harbor Laboratory) (2025) | TGRS Research Map | TGRS