Deep Learning and Explainable AI: New Pathways to Genetic Insights

Fuente: arXiv
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Autori principali: Wang, Chenyu, Zuo, Chaoying, Su, Zihan, Xing, Yuhang, Li, Lu, Wang, Maojun, Zhang, Zeyu
Natura: Preprint
Pubblicazione: 2025
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author Wang, Chenyu
Zuo, Chaoying
Su, Zihan
Xing, Yuhang
Li, Lu
Wang, Maojun
Zhang, Zeyu
author_facet Wang, Chenyu
Zuo, Chaoying
Su, Zihan
Xing, Yuhang
Li, Lu
Wang, Maojun
Zhang, Zeyu
contents Deep learning-based AI models have been extensively applied in genomics, achieving remarkable success across diverse applications. As these models gain prominence, there exists an urgent need for interpretability methods to establish trustworthiness in model-driven decisions. For genetic researchers, interpretable insights derived from these models hold significant value in providing novel perspectives for understanding biological processes. Current interpretability analyses in genomics predominantly rely on intuition and experience rather than rigorous theoretical foundations. In this review, we systematically categorize interpretability methods into input-based and model-based approaches, while critically evaluating their limitations through concrete biological application scenarios. Furthermore, we establish theoretical underpinnings to elucidate the origins of these constraints through formal mathematical demonstrations, aiming to assist genetic researchers in better understanding and designing models in the future. Finally, we provide feasible suggestions for future research on interpretability in the field of genetics.
format Preprint
id arxiv_https___arxiv_org_abs_2505_09873
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle Deep Learning and Explainable AI: New Pathways to Genetic Insights
Wang, Chenyu
Zuo, Chaoying
Su, Zihan
Xing, Yuhang
Li, Lu
Wang, Maojun
Zhang, Zeyu
Genomics
Deep learning-based AI models have been extensively applied in genomics, achieving remarkable success across diverse applications. As these models gain prominence, there exists an urgent need for interpretability methods to establish trustworthiness in model-driven decisions. For genetic researchers, interpretable insights derived from these models hold significant value in providing novel perspectives for understanding biological processes. Current interpretability analyses in genomics predominantly rely on intuition and experience rather than rigorous theoretical foundations. In this review, we systematically categorize interpretability methods into input-based and model-based approaches, while critically evaluating their limitations through concrete biological application scenarios. Furthermore, we establish theoretical underpinnings to elucidate the origins of these constraints through formal mathematical demonstrations, aiming to assist genetic researchers in better understanding and designing models in the future. Finally, we provide feasible suggestions for future research on interpretability in the field of genetics.
title Deep Learning and Explainable AI: New Pathways to Genetic Insights
topic Genomics
url https://arxiv.org/abs/2505.09873