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Supervised promoter recognition: a benchmark framework

MOTIVATION: Deep learning has become a prevalent method in identifying genomic regulatory sequences such as promoters. In a number of recent papers, the performance of deep learning models has continually been reported as an improvement over alternatives for sequence-based promoter recognition. Howe...

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Autores principales: Perez Martell, Raul I., Ziesel, Alison, Jabbari, Hosna, Stege, Ulrike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976979/
https://www.ncbi.nlm.nih.gov/pubmed/35366794
http://dx.doi.org/10.1186/s12859-022-04647-5
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author Perez Martell, Raul I.
Ziesel, Alison
Jabbari, Hosna
Stege, Ulrike
author_facet Perez Martell, Raul I.
Ziesel, Alison
Jabbari, Hosna
Stege, Ulrike
author_sort Perez Martell, Raul I.
collection PubMed
description MOTIVATION: Deep learning has become a prevalent method in identifying genomic regulatory sequences such as promoters. In a number of recent papers, the performance of deep learning models has continually been reported as an improvement over alternatives for sequence-based promoter recognition. However, the performance improvements in these models do not account for the different datasets that models are evaluated on. The lack of a consensus dataset and procedure for benchmarking purposes has made the comparison of each model’s true performance difficult to assess. RESULTS: We present a framework called Supervised Promoter Recognition Framework (‘SUPR REF’) capable of streamlining the complete process of training, validating, testing, and comparing promoter recognition models in a systematic manner. SUPR REF includes the creation of biologically relevant benchmark datasets to be used in the evaluation process of deep learning promoter recognition models. We showcase this framework by comparing the models’ performances on alternative datasets, and properly evaluate previously published models on new benchmark datasets. Our results show that the reliability of deep learning ab initio promoter recognition models on eukaryotic genomic sequences is still not at a sufficient level, as overall performance is still low. These results originate from a subset of promoters, the well-known RNA Polymerase II core promoters. Furthermore, given the observational nature of these data, cross-validation results from small promoter datasets need to be interpreted with caution. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04647-5.
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spelling pubmed-89769792022-04-04 Supervised promoter recognition: a benchmark framework Perez Martell, Raul I. Ziesel, Alison Jabbari, Hosna Stege, Ulrike BMC Bioinformatics Research MOTIVATION: Deep learning has become a prevalent method in identifying genomic regulatory sequences such as promoters. In a number of recent papers, the performance of deep learning models has continually been reported as an improvement over alternatives for sequence-based promoter recognition. However, the performance improvements in these models do not account for the different datasets that models are evaluated on. The lack of a consensus dataset and procedure for benchmarking purposes has made the comparison of each model’s true performance difficult to assess. RESULTS: We present a framework called Supervised Promoter Recognition Framework (‘SUPR REF’) capable of streamlining the complete process of training, validating, testing, and comparing promoter recognition models in a systematic manner. SUPR REF includes the creation of biologically relevant benchmark datasets to be used in the evaluation process of deep learning promoter recognition models. We showcase this framework by comparing the models’ performances on alternative datasets, and properly evaluate previously published models on new benchmark datasets. Our results show that the reliability of deep learning ab initio promoter recognition models on eukaryotic genomic sequences is still not at a sufficient level, as overall performance is still low. These results originate from a subset of promoters, the well-known RNA Polymerase II core promoters. Furthermore, given the observational nature of these data, cross-validation results from small promoter datasets need to be interpreted with caution. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04647-5. BioMed Central 2022-04-02 /pmc/articles/PMC8976979/ /pubmed/35366794 http://dx.doi.org/10.1186/s12859-022-04647-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Perez Martell, Raul I.
Ziesel, Alison
Jabbari, Hosna
Stege, Ulrike
Supervised promoter recognition: a benchmark framework
title Supervised promoter recognition: a benchmark framework
title_full Supervised promoter recognition: a benchmark framework
title_fullStr Supervised promoter recognition: a benchmark framework
title_full_unstemmed Supervised promoter recognition: a benchmark framework
title_short Supervised promoter recognition: a benchmark framework
title_sort supervised promoter recognition: a benchmark framework
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976979/
https://www.ncbi.nlm.nih.gov/pubmed/35366794
http://dx.doi.org/10.1186/s12859-022-04647-5
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