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Here we present a versatile foundation model that can perform a range of clinically-relevant image analysis tasks, including segmentation, landmark localisation, diagnosis, and prognostication. A multi-view convolution-transformer masked…

Image and Video Processing · Electrical Eng. & Systems 2025-09-03 Yunguan Fu , Wenjia Bai , Weixi Yi , Charlotte Manisty , Anish N Bhuva , Thomas A Treibel , James C Moon , Matthew J Clarkson , Rhodri Huw Davies , Yipeng Hu

Background: Genomic instability is a hallmark of cancer, leading to many somatic alterations. Identifying which alterations have a system-wide impact is a challenging task. Nevertheless, this is an essential first step for prioritizing…

Cancer genomes exhibit a large number of different alterations that affect many genes in a diverse manner. It is widely believed that these alterations follow combinatorial patterns that have a strong connection with the underlying…

Machine Learning · Computer Science 2016-01-26 Jack P. Hou , Amin Emad , Gregory J. Puleo , Jian Ma , Olgica Milenkovic

Chromosome karyotype analysis is of great clinical importance in the diagnosis and treatment of diseases, especially for genetic diseases. Since manual analysis is highly time and effort consuming, computer-assisted automatic chromosome…

Computer Vision and Pattern Recognition · Computer Science 2021-03-29 Liye Mei , Yalan Yu , Yueyun Weng , Xiaopeng Guo , Yan Liu , Du Wang , Sheng Liu , Fuling Zhou , Cheng Lei

Cancer diagnosis, prognosis, and therapeutic response predictions are based on morphological information from histology slides and molecular profiles from genomic data. However, most deep learning-based objective outcome prediction and…

Computer Vision and Pattern Recognition · Computer Science 2020-09-04 Richard J. Chen , Ming Y. Lu , Jingwen Wang , Drew F. K. Williamson , Scott J. Rodig , Neal I. Lindeman , Faisal Mahmood

Diagnosing rare diseases presents a common challenge in clinical practice, necessitating the expertise of specialists for accurate identification. The advent of machine learning offers a promising solution, while the development of such…

Machine Learning · Computer Science 2024-03-12 Yifan Wu , Yang Liu , Yue Yang , Michael S. Yao , Wenli Yang , Xuehui Shi , Lihong Yang , Dongjun Li , Yueming Liu , James C. Gee , Xuan Yang , Wenbin Wei , Shi Gu

Cancer is a number of related yet highly heterogeneous diseases. Correct identification of cancer subtypes is critical for clinical decisions. The advance in sequencing technologies has made it possible to study cancer based on abundant…

Applications · Statistics 2018-11-27 Xiaochun Chen , Honggang Wang , Donghui Yan

Automated chromosome instance segmentation from metaphase cell microscopic images is critical for the diagnosis of chromosomal disorders (i.e., karyotype analysis). However, it is still a challenging task due to lacking of densely annotated…

Computer Vision and Pattern Recognition · Computer Science 2023-04-26 Dan You , Pengcheng Xia , Qiuzhu Chen , Minghui Wu , Suncheng Xiang , Jun Wang

Gene expression analysis is a critical method for cancer classification, enabling precise diagnoses through the identification of unique molecular signatures associated with various tumors. Identifying cancer-specific genes from gene…

Quantitative Methods · Quantitative Biology 2024-10-11 Farzana Tabassum , Sabrina Islam , Siana Rizwan , Masrur Sobhan , Tasnim Ahmed , Sabbir Ahmed , Tareque Mohmud Chowdhury

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

Chromosome recognition is an essential task in karyotyping, which plays a vital role in birth defect diagnosis and biomedical research. However, existing classification methods face significant challenges due to the inter-class similarity…

Computer Vision and Pattern Recognition · Computer Science 2023-12-14 Ruijia Chang , Suncheng Xiang , Chengyu Zhou , Kui Su , Dahong Qian , Jun Wang

Computer-aided tumor detection has shown great potential in enhancing the interpretation of over 80 million CT scans performed annually in the United States. However, challenges arise due to the rarity of CT scans with tumors, especially…

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Swift and accurate blood smear analysis is an effective diagnostic method for leukemia and other hematological malignancies. However, manual leukocyte count and morphological evaluation using a microscope is time-consuming and prone to…

Computer Vision and Pattern Recognition · Computer Science 2024-10-22 Chandravardhan Singh Raghaw , Arnav Sharma , Shubhi Bansal , Mohammad Zia Ur Rehman , Nagendra Kumar

Although DNA foundation models have advanced the understanding of genomes, they still face significant challenges in the limited scale and diversity of genomic data. This limitation starkly contrasts with the success of natural language…

Genomics · Quantitative Biology 2024-02-14 Huixin Zhan , Ying Nian Wu , Zijun Zhang

Cardiac magnetic resonance imaging (CMR), considered the gold standard for noninvasive cardiac assessment, is a diverse and complex modality requiring a wide variety of image processing tasks for comprehensive assessment of cardiac…

Image and Video Processing · Electrical Eng. & Systems 2025-12-03 Athira J Jacob , Indraneel Borgohain , Teodora Chitiboi , Puneet Sharma , Dorin Comaniciu , Daniel Rueckert

Multi-omics research has enhanced our understanding of cancer heterogeneity and progression. Investigating molecular data through multi-omics approaches is crucial for unraveling the complex biological mechanisms underlying cancer, thereby…

Multimodal artificial intelligence (AI) systems have the potential to enhance clinical decision-making by interpreting various types of medical data. However, the effectiveness of these models across all medical fields is uncertain. Each…

In histopathology, human experts primarily rely on color as a means of enhancing contrast to interpret tissue morphology, whereas machine vision models process color as raw statistical information. This distinction raises a fundamental…

Computer Vision and Pattern Recognition · Computer Science 2026-05-19 Farnaz Kheiri , Shahryar Rahnamayan , Masoud Makrehchi

Advances in deep-learning-based pipelines have led to breakthroughs in a variety of microscopy image diagnostics. However, a sufficiently big training data set is usually difficult to obtain due to high annotation costs. In the case of…

Image and Video Processing · Electrical Eng. & Systems 2021-09-21 Lukas Uzolas , Javier Rico , Pierrick Coupé , Juan C. SanMiguel , György Cserey