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Objective: Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field. These processes…

The lack of real-world data in clinical fields poses a major obstacle in training effective AI models for diagnostic and preventive tools in medicine. Generative AI has shown promise in increasing data volume and enhancing model training,…

Machine Learning · Computer Science 2026-02-10 Md Shahriar Kabir , Sana Alamgeer , Minakshi Debnath , Anne H. H. Ngu

Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…

Genomics · Quantitative Biology 2015-09-01 Aziz M. Mezlini , Fabio Fuligni , Adam Shlien , Anna Goldenberg

Precise prognostic modeling of glioblastoma (GBM) under varying treatment interventions is essential for optimizing clinical outcomes. While generative AI has shown promise in simulating GBM evolution, existing methods typically treat…

Computer Vision and Pattern Recognition · Computer Science 2026-03-10 Chenhui Wang , Boyun Zheng , Liuxin Bao , Zhihao Peng , Peter Y. M. Woo , Hongming Shan , Yixuan Yuan

Differentiating true tumor progression (TP) from treatment-related pseudoprogression (PsP) in glioblastoma remains challenging, especially at early follow-up. We present the first stage-specific, cross-sectional benchmarking of deep…

Computer Vision and Pattern Recognition · Computer Science 2025-12-30 Wenhao Guo , Golrokh Mirzaei

Large Language Models (LLMs) demonstrate remarkable generalizability across diverse tasks, yet genomic foundation models (GFMs) still require separate finetuning for each downstream application, creating significant overhead as model sizes…

Genomics · Quantitative Biology 2025-02-07 Zehui Li , Vallijah Subasri , Yifei Shen , Dongsheng Li , Yiren Zhao , Guy-Bart Stan , Caihua Shan

Despite the ever-increasing interest in applying deep learning (DL) models to medical imaging, the typical scarcity and imbalance of medical datasets can severely impact the performance of DL models. The generation of synthetic data that…

Image and Video Processing · Electrical Eng. & Systems 2023-04-03 Pouria Rouzrokh , Bardia Khosravi , Shahriar Faghani , Mana Moassefi , Sanaz Vahdati , Bradley J. Erickson

Foundation models (FMs) have exhibited remarkable performance across a wide range of downstream tasks in many domains. Nevertheless, general-purpose FMs often face challenges when confronted with domain-specific problems, due to their…

Computational Engineering, Finance, and Science · Computer Science 2023-08-22 Yizhen Luo , Jiahuan Zhang , Siqi Fan , Kai Yang , Yushuai Wu , Mu Qiao , Zaiqing Nie

The use of diverse modalities, such as omics, medical images, and clinical data can not only improve the performance of prognostic models but also deepen an understanding of disease mechanisms and facilitate the development of novel…

Image and Video Processing · Electrical Eng. & Systems 2025-08-14 Maria Boyko , Aleksandra Beliaeva , Dmitriy Kornilov , Alexander Bernstein , Maxim Sharaev

Identifying the genes and mutations that drive the emergence of tumors is a major step to improve understanding of cancer and identify new directions for disease diagnosis and treatment. Despite the large volume of genomics data, the…

Machine Learning · Computer Science 2022-04-05 Renan Andrades , Mariana Recamonde-Mendoza

Although traditional statistical techniques and machine learning methods have contributed significantly to genetics and, in particular, inherited disease diagnosis, they often struggle with complex, high-dimensional data, a challenge now…

Machine Learning · Computer Science 2025-08-29 Anton Changalidis , Yury Barbitoff , Yulia Nasykhova , Andrey Glotov

We train a neural network to predict distributional responses in gene expression following genetic perturbations. This is an essential task in early-stage drug discovery, where such responses can offer insights into gene function and inform…

Predicting transcriptional responses to novel drugs provides a unique opportunity to accelerate biomedical research and advance drug discovery efforts. However, the inherent complexity and high dimensionality of cellular responses, combined…

Accurate differentiation of pseudoprogression (PsP) from True Progression (TP) following radiotherapy (RT) in glioblastoma (GBM) patients is crucial for optimal treatment planning. However, this task remains challenging due to the…

We introduce a novel data-driven framework for the design of targeted gene panels for estimating exome-wide biomarkers in cancer immunotherapy. Our first goal is to develop a generative model for the profile of mutation across the exome,…

Genomics · Quantitative Biology 2022-02-04 Jacob R. Bradley , Timothy I. Cannings

Computational pathology foundation models (CPathFMs) have emerged as a powerful approach for analyzing histopathological data, leveraging self-supervised learning to extract robust feature representations from unlabeled whole-slide images.…

Computer Vision and Pattern Recognition · Computer Science 2025-02-27 Dong Li , Guihong Wan , Xintao Wu , Xinyu Wu , Ajit J. Nirmal , Christine G. Lian , Peter K. Sorger , Yevgeniy R. Semenov , Chen Zhao

Differentiating tumor progression (TP) from treatment-related necrosis (TN) is critical for clinical management decisions in glioblastoma (GBM). Dynamic FDG PET (dPET), an advance from traditional static FDG PET, may prove advantageous in…

Image and Video Processing · Electrical Eng. & Systems 2023-03-01 Tonmoy Hossain , Zoraiz Qureshi , Nivetha Jayakumar , Thomas Eluvathingal Muttikkal , Sohil Patel , David Schiff , Miaomiao Zhang , Bijoy Kundu

Building a general-purpose task model similar to ChatGPT has been an important research direction for gene large language models. Instruction fine-tuning is a key component in building ChatGPT, but existing instructions are primarily based…

Genomics · Quantitative Biology 2024-12-03 Wang Liang

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Cancer arises from successive rounds of mutations which generate tumor cells with different genomic variation i.e. clones. For drug responsiveness and therapeutics, it is necessary to identify the clones in tumor sample accurately. Many…

Genomics · Quantitative Biology 2015-03-03 Gholamreza Haffari , Zhaoxiang Cai , Mohammad S. Rahman , Ann E. Nicholson