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Missense variant interpretation remains challenging because pathogenicity depends on heterogeneous evidence from population frequency, evolutionary conservation, transcript context, amino acid substitution severity, prior pathogenicity…

Genomics · Quantitative Biology 2026-05-26 Muhammad Muneeb , David B. Ascher

Motivated by applications in precision medicine and treatment effect heterogeneity, recent research has focused on estimating conditional average treatment effects (CATEs) using machine learning (ML). CATE estimates may represent…

Methodology · Statistics 2025-12-30 Oliver J. Hines , Karla Diaz-Ordaz , Stijn Vansteelandt

Masked autoencoders (MAEs) are increasingly applied to electronic health records (EHR) for learning general-purpose representations that support diverse clinical tasks. However, existing approaches typically rely on uniform random masking,…

Machine Learning · Computer Science 2025-12-08 Rajna Fani , Rafi Al Attrach , David Restrepo , Yugang Jia , Leo Anthony Celi , Peter Schüffler

Weighting methods are popular tools for estimating causal effects; assessing their robustness under unobserved confounding is important in practice. In the following paper, we introduce a new set of sensitivity models called "variance-based…

Methodology · Statistics 2023-03-14 Melody Huang , Samuel D. Pimentel

Human veins are important for carrying the blood from the body-parts to the heart. The improper functioning of the human veins may arise from several venous diseases. Varicose vein is one such disease wherein back flow of blood can occur,…

Image and Video Processing · Electrical Eng. & Systems 2023-03-22 Maryam Viqar , Violeta Madjarova , Vipul Baghel , Elena Stoykova

Screening is critical for prevention and early detection of cervical cancer but it is time-consuming and laborious. Supervised deep convolutional neural networks have been developed to automate pap smear screening and the results are…

Computer Vision and Pattern Recognition · Computer Science 2023-11-20 Yu Ando , Nora Jee-Young Park and , Gun Oh Chong , Seokhwan Ko , Donghyeon Lee , Junghwan Cho , Hyungsoo Han

In this paper, we visualize and quantify the predictive uncertainty of gradient-based post hoc visual explanations for neural networks. Predictive uncertainty refers to the variability in the network predictions under perturbations to the…

Machine Learning · Computer Science 2024-06-04 Mohit Prabhushankar , Ghassan AlRegib

Identifying prostate cancer patients that are harboring aggressive forms of prostate cancer remains a significant clinical challenge. To shed light on this problem, we develop an approach based on multispectral deep-ultraviolet (UV)…

Undoubtedly breast cancer identifies itself as one of the most widespread and terrifying cancers across the globe. Millions of women are getting affected each year from it. Breast cancer remains the major one for being the reason of largest…

Image and Video Processing · Electrical Eng. & Systems 2024-03-28 Sheekar Banerjee , Md. Kamrul Hasan Monir

Reliable uncertainty quantification is crucial for trustworthy decision-making and the deployment of AI models in medical imaging. While prior work has explored the ability of neural networks to quantify predictive, epistemic, and aleatoric…

Machine Learning · Statistics 2025-08-07 Simon Baur , Wojciech Samek , Jackie Ma

Motivation. Understanding the pan-cancer mutational landscape offers critical insights into the molecular mechanisms underlying tumorigenesis. While patient-level machine learning techniques have been widely employed to identify tumor…

Machine Learning · Computer Science 2025-08-29 Yifan Dou , Adam Khadre , Ruben C Petreaca , Golrokh Mirzaei

Pathology text mining is a challenging task given the reporting variability and constant new findings in cancer sub-type definitions. However, successful text mining of a large pathology database can play a critical role to advance 'big…

Computation and Language · Computer Science 2022-05-17 Thiago Santos , Amara Tariq , Susmita Das , Kavyasree Vayalpati , Geoffrey H. Smith , Hari Trivedi , Imon Banerjee

Machine learning is bringing a paradigm shift to healthcare by changing the process of disease diagnosis and prognosis in clinics and hospitals. This development equips doctors and medical staff with tools to evaluate their hypotheses and…

This study evaluates the effectiveness of deep learning models in classifying histopathological images for early and accurate detection of breast cancer. Eight advanced models, including ResNet-50, DenseNet-121, ResNeXt-50, Vision…

Image and Video Processing · Electrical Eng. & Systems 2025-05-09 Sania Eskandari , Ali Eslamian , Nusrat Munia , Amjad Alqarni , Qiang Cheng

Skin cancer is a common and fast rising malignancy worldwide. Early detection is critical for improving outcomes. Deep learning models trained on dermoscopic and clinical images can support automated and fast triage. However, many studies…

Computer Vision and Pattern Recognition · Computer Science 2026-05-27 Durjoy Dey , Yuhong Yan , Hassan Hajjdiab

Automated 3D segmentation of prostate lesions from biparametric MRI (bp-MRI) is essential for reliable algorithmic analysis, but achieving high precision remains challenging. Volumetric methods must combine multiple modalities while…

Computer Vision and Pattern Recognition · Computer Science 2026-04-22 Cuiling Sun , Linkai Peng , Adam Murphy , Elif Keles , Hiten D. Patel , Ashley Ross , Frank Miller , Baris Turkbey , Andrea Mia Bejar , Halil Ertugrul Aktas , Gorkem Durak , Ulas Bagci

Deep learning models are being adopted and applied on various critical decision-making tasks, yet they are trained to provide point predictions without providing degrees of confidence. The trustworthiness of deep learning models can be…

Machine Learning · Computer Science 2024-10-28 Daniel Nolte , Souparno Ghosh , Ranadip Pal

In this work, we propose a deep U-Net based model to tackle the challenging task of prostate cancer segmentation by aggressiveness in MRI based on weak scribble annotations. This model extends the size constraint loss proposed by Kervadec…

Image and Video Processing · Electrical Eng. & Systems 2022-07-13 Audrey Duran , Gaspard Dussert , Carole Lartizien

Image segmentation is a critical step in computational biomedical image analysis, typically evaluated using metrics like the Dice coefficient during training and validation. However, in clinical settings without manual annotations,…

Computer Vision and Pattern Recognition · Computer Science 2025-08-05 Sikha O K , Meritxell Riera-Marín , Adrian Galdran , Javier García Lopez , Julia Rodríguez-Comas , Gemma Piella , Miguel A. González Ballester

Liver tumour ablation presents a significant clinical challenge: whilst tumours are clearly visible on pre-operative MRI, they are often effectively invisible on intra-operative CT due to minimal contrast between pathological and healthy…

Image and Video Processing · Electrical Eng. & Systems 2026-02-24 Budhaditya Mukhopadhyay , Chirag Mandal , Pavan Tummala , Naghmeh Mahmoodian , Andreas Nürnberger , Soumick Chatterjee