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Although bulk transcriptomic analyses have significantly contributed to an enhanced comprehension of multifaceted diseases, their exploration capacity is impeded by the heterogeneous compositions of biological samples. Indeed, by averaging…

Quantitative Methods · Quantitative Biology 2023-10-24 Bastien Chassagnol , Grégory Nuel , Etienne Becht

Breast cancer, the second leading cause of cancer-related deaths globally, accounts for a quarter of all cancer cases [1]. To lower this death rate, it is crucial to detect tumors early, as early-stage detection significantly improves…

Computer Vision and Pattern Recognition · Computer Science 2025-09-26 Samia Saeed , Khuram Naveed

Single-cell RNA sequencing (scRNA-seq) enables single-cell transcriptomic profiling, revealing cellular heterogeneity and rare populations. Recent deep learning models like Geneformer and Mouse-Geneformer perform well on tasks such as…

Genomics · Quantitative Biology 2025-07-11 Yuki Nishio , Takayoshi Yamashita , Keita Ito , Tsubasa Hirakawa , Hironobu Fujiyoshi

Accurate molecular subtype classification is essential for personalized breast cancer treatment, yet conventional immunohistochemical analysis relies on invasive biopsies and is prone to sampling bias. Although dynamic contrast-enhanced…

Computer Vision and Pattern Recognition · Computer Science 2026-01-13 Sen Zeng , Hong Zhou , Zheng Zhu , Yang Liu

Risk estimation of developing breast cancer poses as the first prevention method for early diagnosis. Furthermore, data integration from different departments involved in the process plays a key role. In order to guarantee patient safety,…

Other Computer Science · Computer Science 2010-12-09 Iker Huerga , Ainhoa Serna , Jon Kepa Gerrikagoitia

CRISPR-Cas13 is a system that utilizes single stranded RNAs for RNA editing. Prediction of on-target and off-target effects for the CRISPR-Cas13d dependency enables us to design specific single guide RNAs (sgRNAs) that help locate the…

Quantitative Methods · Quantitative Biology 2023-05-12 Jingze Liu , Jiahao Ma

Breast cancer is the most common cancer in the world and the most prevalent cause of death among women worldwide. Nevertheless, it is also one of the most treatable malignancies if detected early. In this paper, a deep convolutional neural…

Computer Vision and Pattern Recognition · Computer Science 2021-12-23 Hussin Ragb , Redha Ali , Elforjani Jera , Nagi Buaossa

RNA velocity is a model of gene expression dynamics designed to analyze single-cell RNA sequencing (scRNA-seq) data, and it has recently gained significant attention. However, despite its popularity, the model has raised several concerns,…

Applications · Statistics 2025-05-07 Elena Sabbioni , Enrico Bibbona , Gianluca Mastrantonio , Guido Sanguinetti

An important part of breast cancer staging is the assessment of the sentinel axillary node for early signs of tumor spreading. However, this assessment by pathologists is not always easy and retrospective surveys often requalify the status…

Quantitative Methods · Quantitative Biology 2024-04-30 Eric Bonnet

Deep learning has introduced several learning-based methods to recognize breast tumours and presents high applicability in breast cancer diagnostics. It has presented itself as a practical installment in Computer-Aided Diagnostic (CAD)…

Image and Video Processing · Electrical Eng. & Systems 2022-02-15 Timothy Kwong , Samaneh Mazaheri

Feature selection is a machine learning technique for identifying relevant variables in classification and regression models. In single-cell RNA sequencing (scRNA-seq) data analysis, feature selection is used to identify relevant genes that…

Genomics · Quantitative Biology 2025-12-02 Selim Romero , Shreyan Gupta , Victoria Gatlin , Robert S. Chapkin , James J. Cai

Applications of single-cell RNA sequencing in various biomedical research areas have been blooming. This new technology provides unprecedented opportunities to study disease heterogeneity at the cellular level. However, unique…

Genomics · Quantitative Biology 2021-10-26 Xinlei Mi , William Bekerman , Peter A. Sims , Peter D. Canoll , Jianhua Hu

Cancer pathology is unique to a given individual, and developing personalized diagnostic and treatment protocols are a primary concern. Mathematical modeling and simulation is a promising approach to personalized cancer medicine. Yet, the…

Tissues and Organs · Quantitative Biology 2020-08-03 Alvaro Köhn-Luque , Xiaoran Lai , Arnoldo Frigessi

Cancer is a term that denotes a group of diseases caused by abnormal growth of cells that can spread in different parts of the body. According to the World Health Organization (WHO), cancer is the second major cause of death after…

Machine Learning · Computer Science 2023-01-31 Fadi Alharbi , Aleksandar Vakanski

Polygenic risk scores (PRS) estimate the genetic risk of an individual for a complex disease based on many genetic variants across the whole genome. In this study, we compared a series of computational models for estimation of breast cancer…

Quantitative Methods · Quantitative Biology 2023-07-26 Adrien Badré , Li Zhang , Wellington Muchero , Justin C. Reynolds , Chongle Pan

Convolutional neural networks (CNNs) have been recently used for a variety of histology image analysis. However, availability of a large dataset is a major prerequisite for training a CNN which limits its use by the computational pathology…

Computer Vision and Pattern Recognition · Computer Science 2018-03-07 Ruqayya Awan , Navid Alemi Koohbanani , Muhammad Shaban , Anna Lisowska , Nasir Rajpoot

Breast cancer is one of the most common and dangerous cancers in women, while it can also afflict men. Breast cancer treatment and detection are greatly aided by the use of histopathological images since they contain sufficient phenotypic…

Image and Video Processing · Electrical Eng. & Systems 2023-04-12 Md Ishtyaq Mahmud , Muntasir Mamun , Ahmed Abdelgawad

Recent advances in cancer research largely rely on new developments in microscopic or molecular profiling techniques offering high level of detail with respect to either spatial or molecular features, but usually not both. Here, we present…

Non-synonymous single nucleotide polymorphisms (nsSNPs) are single nucleotide substitution occurring in the coding region of a gene and leads to a change in amino-acid sequence of protein. The studies have shown these variations may be…