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Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

Figuring out small molecule binding sites in target proteins, in the resolution of either pocket or residue, is critical in many virtual and real drug-discovery scenarios. Since it is not always easy to find such binding sites based on…

Quantitative Methods · Quantitative Biology 2023-04-19 Daeseok Lee , Jeunghyun Byun , Bonggun Shin

Common psychiatric and brain disorders are highly heritable and affected by a number of genetic risk factors, yet the mechanism by which these genetic factors contribute to the disorders through alterations in brain structure and function…

Methodology · Statistics 2025-11-26 Neng Wang , Eric V. Slud , Tianzhou Ma

Genome-scale screening experiments in cancer produce long lists of candidate genes that require extensive interpretation for biological insight and prioritization for follow-up studies. Interrogation of gene lists frequently represents a…

Sequence modelling approaches for epigenetic profile prediction have recently expanded in terms of sequence length, model size, and profile diversity. However, current models cannot infer on many experimentally feasible tissue and assay…

Genomics · Quantitative Biology 2023-08-24 Jacob Deasy , Ron Schwessinger , Ferran Gonzalez , Stephen Young , Kim Branson

Dynamic contrast enhanced computed tomography (CT) is an imaging technique that provides critical information on the relationship of vascular structure and dynamics in the context of underlying anatomy. A key challenge for image processing…

Genetic pathways usually encode molecular mechanisms that can inform targeted interventions. It is often challenging for existing machine learning approaches to jointly model genetic pathways (higher-order features) and variants (atomic…

Quantitative Methods · Quantitative Biology 2021-11-19 Yuan Luo , Chengsheng Mao

Accurately predicting the survival rate of cancer patients is crucial for aiding clinicians in planning appropriate treatment, reducing cancer-related medical expenses, and significantly enhancing patients' quality of life. Multimodal…

Computer Vision and Pattern Recognition · Computer Science 2024-03-15 Liangrui Pan , Yijun Peng , Yan Li , Xiang Wang , Wenjuan Liu , Liwen Xu , Qingchun Liang , Shaoliang Peng

Whole-genome sequencing (WGS) has revealed numerous non-coding short variants whose functional impacts remain poorly understood. Despite recent advances in deep-learning genomic approaches, accurately predicting and prioritizing clinically…

We propose AttentionMixer, a unified deep learning framework for multimodal detection of brain edema that combines structural head CT (HCT) with routine clinical metadata. While HCT provides rich spatial information, clinical variables such…

The task of understanding and interpreting the complex information encoded within genomic sequences remains a grand challenge in biological research and clinical applications. In this context, recent advancements in large language model…

Genomics · Quantitative Biology 2024-09-25 Qihang Zhao , Chi Zhang , Weixiong Zhang

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

Intrinsically disordered regions of proteins play a crucial role in cell signaling and drug discovery. However, their high structural flexibility makes accurate residue-level prediction challenging. Existing methods often rely on…

Neural and Evolutionary Computing · Computer Science 2026-03-09 Shaokuan Wang , Pengshan Cui , Yining Qian , An-Yang Lu , Xianpeng Wang

Blood biomarkers are an essential tool for healthcare providers to diagnose, monitor, and treat a wide range of medical conditions. Current reference values and recommended ranges often rely on population-level statistics, which may not…

Machine Learning · Computer Science 2024-07-11 A. Ali Heydari , Naghmeh Rezaei , Javier L. Prieto , Shwetak N. Patel , Ahmed A. Metwally

BACKGROUND: Breast cancer has emerged as one of the most prevalent cancers among women leading to a high mortality rate. Due to the heterogeneous nature of breast cancer, there is a need to identify differentially expressed genes associated…

Machine Learning · Computer Science 2021-11-30 Sheetal Rajpal , Ankit Rajpal , Manoj Agarwal , Naveen Kumar

Transformer-based models have achieved remarkable success in natural language and vision tasks, but their application to gene expression analysis remains limited due to data sparsity, high dimensionality, and missing values. We present…

Machine Learning · Computer Science 2025-04-15 Shuai Jiang , Saeed Hassanpour

Predicting genetic mutations from whole slide images is indispensable for cancer diagnosis. However, existing work training multiple binary classification models faces two challenges: (a) Training multiple binary classifiers is inefficient…

Computer Vision and Pattern Recognition · Computer Science 2024-06-06 Gexin Huang , Chenfei Wu , Mingjie Li , Xiaojun Chang , Ling Chen , Ying Sun , Shen Zhao , Xiaodan Liang , Liang Lin

Molecular and genetic definitions of human-specific changes to genomic regulatory networks (GRNs) contributing to development of unique to human phenotypes remain a highly significant challenge. Genome-wide proximity placement analysis of…

Genomics · Quantitative Biology 2025-12-30 Gennadi Glinsky

In many classification problems, we want a classifier that is robust to a range of non-semantic transformations. For example, a human can identify a dog in a picture regardless of the orientation and pose in which it appears. There is…

Machine Learning · Computer Science 2021-12-20 Scott Mahan , Tim Doster , Henry Kvinge

Foundation models are trained on massive amounts of data to distinguish complex patterns and can be adapted to a wide range of downstream tasks with minimal computational resources. Here, we develop a foundation model for prostate cancer…

Image and Video Processing · Electrical Eng. & Systems 2024-11-25 Joona Pohjonen , Abderrahim-Oussama Batouche , Antti Rannikko , Kevin Sandeman , Andrew Erickson , Esa Pitkanen , Tuomas Mirtti