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Designing interpretable deep learning applications for functional genomics: a quantitative analysis

delete2024-09-18
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A
Arno van Hilten
S
Sonja Katz *
E
Edoardo Saccenti
W
Wiro J. Niessen
G
Gennady V. Roshchupkin
DOI:10.1093/bib/bbae449delete
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摘要

摘要

En 中文
Deep learning applications have had a profound impact on many scientific fields, including functional genomics. Deep learning models can learn complex interactions between and within omics data; however, interpreting and explaining these models can be challenging. Interpretability is essential not only to help progress our understanding of the biological mechanisms underlying traits and diseases but also for establishing trust in these model's efficacy for healthcare applications. Recognizing this importance, recent years have seen the development of numerous diverse interpretability strategies, making it increasingly difficult to navigate the field. In this review, we present a quantitative analysis of the challenges arising when designing interpretable deep learning solutions in functional genomics. We explore design choices related to the characteristics of genomics data, the neural network architectures applied, and strategies for interpretation. By quantifying the current state of the field with a predefined set of criteria, we find the most frequent solutions, highlight exceptional examples, and identify unexplored opportunities for developing interpretable deep learning models in genomics.
Keyword:
interpretable
explainable
visible
deep learning
omics
genomics
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期刊

Briefings in Bioinformatics 封面图
Briefings in Bioinformatics
IF:
7.7
论文数:
5.6K
被引数:
2.7W

机构

E
Erasmus University Rotterdam
学者数:
4.6W
论文数: 4.0W
被引数: 2.4W
W
Wageningen University & Research
学者数:
2.9W
论文数: 2.8W
被引数: 55
E
Erasmus MC
学者数:
2.9W
论文数: 2.5W
被引数: 3.4W
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