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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…

Genomics · Quantitative Biology 2025-05-16 Chenyu Wang , Chaoying Zuo , Zihan Su , Yuhang Xing , Lu Li , Maojun Wang , Zeyu Zhang

Deep neural networks excel in mapping genomic DNA sequences to associated readouts (e.g., protein-DNA binding). Beyond prediction, the goal of these networks is to reveal to scientists the underlying motifs (and their syntax) which drive…

Genomics · Quantitative Biology 2024-10-10 Alex M. Tseng , Gokcen Eraslan , Tommaso Biancalani , Gabriele Scalia

We consider the problem of predicting gene expressions from DNA sequences. A key challenge of this task is to find the regulatory elements that control gene expressions. Here, we introduce Seq2Exp, a Sequence to Expression network…

Genomics · Quantitative Biology 2025-02-21 Xingyu Su , Haiyang Yu , Degui Zhi , Shuiwang Ji

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and molecular levels requires deciphering the cis-regulatory code, the sequence rules by which non-coding regions regulate genes. In this perspective,…

Robust machine learning for regulatory genomics is studied under biologically and technically induced distribution shifts. Deep convolutional and attention based models achieve strong in distribution performance on DNA regulatory sequence…

Genomics · Quantitative Biology 2026-02-20 Yiyao Yang

Cells receive a wide variety of cellular and environmental signals, which must be processed combinatorially to generate specific and timely genetic responses. We present here a theoretical study on the combinatorial control and integration…

Soft Condensed Matter · Physics 2007-05-23 Nicolas E. Buchler , Ulrich Gerland , Terence Hwa

In recent years, several machine learning approaches have been proposed to predict gene expression and epigenetic signals from the DNA sequence alone. These models are often used to deduce, and, to some extent, assess putative new…

Genomics · Quantitative Biology 2023-04-26 Laurent Bréhélin

Gene regulation is a complex process involving the role of several genomic elements which work in concert to drive spatio-temporal expression. The experimental characterization of gene regulatory elements is a very complex and…

Genomics · Quantitative Biology 2007-10-11 Arvind Rao , Alfred O. Hero , David J. States , James Douglas Engel

Deep learning continues to revolutionize an ever-growing number of critical application areas including healthcare, transportation, finance, and basic sciences. Despite their increased predictive power, model transparency and human…

Machine Learning · Computer Science 2020-04-28 Benjamin Shickel , Parisa Rashidi

The promise of discovering a functional blueprint of a cellular system from large-scale and high-throughput sequence and experimental data is predicated on the belief that the same top-down investigative approach that proved successful in…

Molecular Networks · Quantitative Biology 2007-05-23 Riccardo Boscolo , Behnam A. Rezaei , P. Oscar Boykin , Vwani P. Roychowdhury

Artificial Intelligence models are becoming increasingly more powerful and accurate, supporting or even replacing humans' decision making. But with increased power and accuracy also comes higher complexity, making it hard for users to…

Artificial Intelligence · Computer Science 2019-07-10 Vivian S. Silva , André Freitas , Siegfried Handschuh

Decoding how linear DNA encodes regulatory information remains a central challenge. Existing decoding approaches lack interpretability and struggle to reveal the underlying coding principles. Here, we present the interpretability-first,…

Other Quantitative Biology · Quantitative Biology 2025-09-29 Li Yang , Dongbo Wang

Black box deep learning models trained on genomic sequences excel at predicting the outcomes of different gene regulatory mechanisms. Therefore, interpreting these models may provide novel insights into the underlying biology, supporting…

Machine Learning · Computer Science 2024-07-18 Pedro Barbosa , Rosina Savisaar , Alcides Fonseca

The adoption of deep learning techniques in genomics has been hindered by the difficulty of mechanistically interpreting the models that these techniques produce. In recent years, a variety of post-hoc attribution methods have been proposed…

Molecular Networks · Quantitative Biology 2020-02-11 Ammar Tareen , Justin B. Kinney

Despite success in many domains, neural models struggle in settings where train and test examples are drawn from different distributions. In particular, in contrast to humans, conventional sequence-to-sequence (seq2seq) models fail to…

Computation and Language · Computer Science 2021-10-28 Bailin Wang , Mirella Lapata , Ivan Titov

A transversal topic of my research has been the development and application of computational methods for DNA sequence analysis. The methods I have been developing aim at improving our understanding of the regulation processes happening in…

Genomics · Quantitative Biology 2014-09-24 Valentina Boeva

Seq2Seq based neural architectures have become the go-to architecture to apply to sequence to sequence language tasks. Despite their excellent performance on these tasks, recent work has noted that these models usually do not fully capture…

Computation and Language · Computer Science 2018-05-10 Noah Weber , Leena Shekhar , Niranjan Balasubramanian

Sequence-to-sequence (seq2seq) models have been successful across many NLP tasks, including ones that require predicting linguistic structure. However, recent work on compositional generalization has shown that seq2seq models achieve very…

Computation and Language · Computer Science 2022-10-25 Yuekun Yao , Alexander Koller

The data-to-equation (Data2Eqn) task aims to discover interpretable mathematical equations that map observed values to labels, offering physical insights and broad applicability across academic and industrial domains. Genetic programming…

Machine Learning · Computer Science 2025-05-22 Wangyang Ying , Haoyue Bai , Nanxu Gong , Xinyuan Wang , Sixun Dong , Haifeng Chen , Yanjie Fu

Generative modeling has become a central paradigm in protein research, extending machine learning beyond structure prediction toward sequence design, backbone generation, inverse folding, and biomolecular interaction modeling. However, the…

Machine Learning · Computer Science 2026-03-30 Senura Hansaja Wanasekara , Minh-Duong Nguyen , Xiaochen Liu , Nguyen H. Tran , Ken-Tye Yong
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