Summary statistics and approximate bayesian computation are comparable to convolutional neural networks for inferring times to fixation

Detecting signatures of positive selection in genomes is a common application of population genetics and one of the most influential models for this task is the hard selective sweep where a de novo mutation rapidly fixes. Many statistics have been developed to detect hard sweeps, often attempting to summarize signatures left behind in the site frequency, spectrum, linkage disequilibrium, and haplotype frequency. However, potentially undiscovered signals could still exist. We attempted to test whether any undiscovered signatures of hard sweeps exist by comparing machine learning models, which can learn signatures from raw data without any prior knowledge, to known summary statistics for inferring the time to fixation <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mfenced> <mml:mrow> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>f</mml:mi></mml:mrow> </mml:msub> </mml:mrow> </mml:mfenced> </mml:math> of a hard sweep in a background of variable sweep ages <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mfenced> <mml:mrow> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>a</mml:mi></mml:mrow> </mml:msub> </mml:mrow> </mml:mfenced> </mml:math> . Across approximately 200,000 simulations encompassing 5 different demographic scenarios of single panmictic populations, machine learning models trained directly on raw genotype data failed to better predict <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>f</mml:mi></mml:mrow> </mml:msub> </mml:math> than methods based purely on common summary statistics. This suggests few undiscovered signals remain in single timepoint, single population genotype data that can better disentangle <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>f</mml:mi></mml:mrow> </mml:msub> </mml:math> and <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>a</mml:mi></mml:mrow> </mml:msub> </mml:math> of hard sweeps.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-02-18
DOI
https://doi.org/10.64898/2026.02.17.706432
Primary Topic
Genetic Associations and Epidemiology
Type
article
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article

Summary statistics and approximate bayesian computation are comparable to convolutional neural networks for inferring times to fixation

Miles Roberts, Emily B. Josephs
bioRxiv (Cold Spring Harbor Laboratory)
Genetic Associations and Epidemiology
article

Summary statistics and approximate bayesian computation are comparable to convolutional neural networks for inferring times to fixation

Miles Roberts, Emily B. Josephs
article en

Abstract

Detecting signatures of positive selection in genomes is a common application of population genetics and one of the most influential models for this task is the hard selective sweep where a de novo mutation rapidly fixes. Many statistics have been developed to detect hard sweeps, often attempting to summarize signatures left behind in the site frequency, spectrum, linkage disequilibrium, and haplotype frequency. However, potentially undiscovered signals could still exist. We attempted to test whether any undiscovered signatures of hard sweeps exist by comparing machine learning models, which can learn signatures from raw data without any prior knowledge, to known summary statistics for inferring the time to fixation <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mfenced> <mml:mrow> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>f</mml:mi></mml:mrow> </mml:msub> </mml:mrow> </mml:mfenced> </mml:math> of a hard sweep in a background of variable sweep ages <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mfenced> <mml:mrow> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>a</mml:mi></mml:mrow> </mml:msub> </mml:mrow> </mml:mfenced> </mml:math> . Across approximately 200,000 simulations encompassing 5 different demographic scenarios of single panmictic populations, machine learning models trained directly on raw genotype data failed to better predict <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>f</mml:mi></mml:mrow> </mml:msub> </mml:math> than methods based purely on common summary statistics. This suggests few undiscovered signals remain in single timepoint, single population genotype data that can better disentangle <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>f</mml:mi></mml:mrow> </mml:msub> </mml:math> and <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msub><mml:mrow><mml:mi>t</mml:mi></mml:mrow> <mml:mrow><mml:mi>a</mml:mi></mml:mrow> </mml:msub> </mml:math> of hard sweeps.

bioRxiv (Cold Spring Harbor Laboratory)
Michigan State University (US)
Reduced inequalities
Openalex Percentile: Top 49%
Genetic Associations and Epidemiology
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