Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN

Abstract Deep learning classification models based on Convolutional Neural Networks (CNNs) are increasingly used in population genetic inference for detecting signatures of natural selection. Prevailing detection methods treat the design of the classifier as a discrete phase, assuming that high clas...

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Main Authors: Sjoerd van den Belt, Nikolaos Alachiotis
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-025-07480-7
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author Sjoerd van den Belt
Nikolaos Alachiotis
author_facet Sjoerd van den Belt
Nikolaos Alachiotis
author_sort Sjoerd van den Belt
collection DOAJ
description Abstract Deep learning classification models based on Convolutional Neural Networks (CNNs) are increasingly used in population genetic inference for detecting signatures of natural selection. Prevailing detection methods treat the design of the classifier as a discrete phase, assuming that high classification accuracy is the sole prerequisite for precise detection. This frequently steers method development toward classification-driven optimizations that can inadvertently impede detection. We present FASTER-NN, a CNN classifier designed specifically for the precise detection of natural selection. It has higher sensitivity than state-of-the-art CNN classifiers while only processing allele frequencies and genomic positions through dilated convolutions to maximize data reuse. As a result, execution time is invariant to the sample size and the chromosome length, creating a highly suitable solution for large-scale, whole-genome scans. Furthermore, FASTER-NN can accurately identify selective sweeps in recombination hotspots, which is a highly challenging detection problem with very limited theoretical treatment to date.
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spelling doaj-art-7d510ff6529046e8a0fdbed66308a6d22025-01-19T12:35:19ZengNature PortfolioCommunications Biology2399-36422025-01-018111210.1038/s42003-025-07480-7Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NNSjoerd van den Belt0Nikolaos Alachiotis1University of TwenteUniversity of TwenteAbstract Deep learning classification models based on Convolutional Neural Networks (CNNs) are increasingly used in population genetic inference for detecting signatures of natural selection. Prevailing detection methods treat the design of the classifier as a discrete phase, assuming that high classification accuracy is the sole prerequisite for precise detection. This frequently steers method development toward classification-driven optimizations that can inadvertently impede detection. We present FASTER-NN, a CNN classifier designed specifically for the precise detection of natural selection. It has higher sensitivity than state-of-the-art CNN classifiers while only processing allele frequencies and genomic positions through dilated convolutions to maximize data reuse. As a result, execution time is invariant to the sample size and the chromosome length, creating a highly suitable solution for large-scale, whole-genome scans. Furthermore, FASTER-NN can accurately identify selective sweeps in recombination hotspots, which is a highly challenging detection problem with very limited theoretical treatment to date.https://doi.org/10.1038/s42003-025-07480-7
spellingShingle Sjoerd van den Belt
Nikolaos Alachiotis
Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN
Communications Biology
title Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN
title_full Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN
title_fullStr Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN
title_full_unstemmed Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN
title_short Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN
title_sort fast and accurate deep learning scans for signatures of natural selection in genomes using faster nn
url https://doi.org/10.1038/s42003-025-07480-7
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