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Ensuring trustworthiness is fundamental to the development of artificial intelligence (AI) that is considered societally responsible, particularly in cancer diagnostics, where a misdiagnosis can have dire consequences. Current digital…

Image and Video Processing · Electrical Eng. & Systems 2025-01-03 Xiaoge Zhang , Tao Wang , Chao Yan , Fedaa Najdawi , Kai Zhou , Yuan Ma , Yiu-ming Cheung , Bradley A. Malin

RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

The authors' "metatools" are a collection of tools for generic programming. This includes generating Java sources from mathematically well-founded specifications, as well as the creation of strictly typed document object models for XML…

Software Engineering · Computer Science 2011-11-22 Markus Lepper , Baltasar Trancón y Widemann

Changes in the number of copies of certain parts of the genome, known as copy number alterations (CNAs), due to somatic mutation processes are a hallmark of many cancers. This genomic complexity is known to be associated with poorer…

Genomics · Quantitative Biology 2024-08-26 Charles Gadd , Christopher Yau

Mapper, a topological algorithm, is frequently used as an exploratory tool to build a graphical representation of data. This representation can help to gain a better understanding of the intrinsic shape of high-dimensional genomic data and…

Genomics · Quantitative Biology 2023-07-19 Erik J. Amézquita , Farzana Nasrin , Kathleen M. Storey , Masato Yoshizawa

Cancer subtyping is crucial for understanding the nature of tumors and providing suitable therapy. However, existing labelling methods are medically controversial, and have driven the process of subtyping away from teaching signals.…

Machine Learning · Computer Science 2022-11-15 Zheng Chen , Lingwei Zhu , Ziwei Yang , Takashi Matsubara

Statistical inference on the cancer-site specificities of collective ultra-rare whole genome somatic mutations is an open problem. Traditional statistical methods cannot handle whole-genome mutation data due to their…

Methodology · Statistics 2023-01-02 Saptarshi Chakraborty , Zoe Guan , Colin B. Begg , Ronglai Shen

The cellular composition of the tumor microenvironment can directly impact cancer progression and the efficacy of therapeutics. Understanding immune cell activity, the body's natural defense mechanism, in the vicinity of cancerous cells is…

Genomics · Quantitative Biology 2022-05-04 Cecily Wolfe , Yayi Feng , David Chen , Edwin Purcell , Anne Talkington , Sepideh Dolatshahi , Heman Shakeri

Summary: With the rapid development of long-read sequencing technologies, the era of individual complete genomes is approaching. We have developed wgatools, a cross-platform, ultrafast toolkit that supports a range of whole genome alignment…

Genomics · Quantitative Biology 2025-04-01 Wenjie Wei , Songtao Gui , Jian Yang , Erik Garrison , Jianbing Yan , Hai-Jun Liu

Motivation: We introduce TRONCO (TRanslational ONCOlogy), an open-source R package that implements the state-of-the-art algorithms for the inference of cancer progression models from (epi)genomic mutational profiles. TRONCO can be used to…

Quantitative Methods · Quantitative Biology 2016-02-11 Luca De Sano , Giulio Caravagna , Daniele Ramazzotti , Alex Graudenzi , Giancarlo Mauri , Bud Mishra , Marco Antoniotti

Motivation: TiQuant is a modular software tool for efficient quantification of biological tissues based on volume data obtained by biomedical image modalities. It includes a number of versatile image and volume processing chains tailored to…

Computational Engineering, Finance, and Science · Computer Science 2014-10-20 Adrian Friebel , Johannes Neitsch , Tim Johann , Seddik Hammad , Jan G. Hengstler , Dirk Drasdo , Stefan Hoehme

The gamma-ray total absorption facility (GTAF) composed of 40 BaF2 detection units is designed to measure the cross section data of neutron radiation capture reaction online, in order to comply with the experimental nuclear data sheet.We…

Instrumentation and Detectors · Physics 2025-11-06 Chong Zou , Qiwei Zhang , Guangyuan Luan , Hongyi Wu , Haotian Luo , Xuanbo Chen , Xiaoyu Wang , Guozhu He , Jie Ren , Hanxiong Huang , Xichao Ruan , Jie Bao , Xinghua Zhu

A suitable piece of software is presented to connect Abaqus, a sophisticated finite element package, with Matlab, the most comprehensive program for mathematical analysis. This interface between these well-known codes not only benefits from…

Mathematical Software · Computer Science 2017-11-29 George Papazafeiropoulos , Miguel Muñiz-Calvente , Emilio Martínez-Pañeda

Breast cancer histopathology image classification is critical for early detection and improved patient outcomes. 1 This study introduces a novel approach leveraging EfficientNetV2 models, to improve feature extraction and focus on relevant…

Image and Video Processing · Electrical Eng. & Systems 2025-05-14 Naren Sengodan

Pattern detection and string matching are fundamental problems in computer science and the accelerated expansion of bioinformatics and computational biology have made them a core topic for both disciplines. The SARS-CoV-2 pandemic has made…

Genomics · Quantitative Biology 2025-05-14 Konstantinos Xylogiannopoulos

Human epidermal growth factor receptor 2 (HER2) is a critical protein in cancer cell growth that signifies the aggressiveness of breast cancer (BC) and helps predict its prognosis. Accurate assessment of immunohistochemically (IHC) stained…

DNA copy number aberrations (CNAs) can be found in the majority of cancer genomes, and are crucial for understanding the potential mechanisms underlying tumor initiation and progression. Since the first release in 2001, the Progenetix…

Genomics · Quantitative Biology 2013-11-13 Haoyang Cai , Nitin Kumar , Ni Ai , Saumya Gupta , Prisni Rath , Michael Baudis

This paper introduces a high-throughput software tool framework called {\it sam2bam} that enables users to significantly speedup pre-processing for next-generation sequencing data. The sam2bam is especially efficient on single-node…

Genomics · Quantitative Biology 2017-02-08 Takeshi Ogasawara , Yinhe Cheng , Tzy-Hwa Kathy Tzeng

Histopathology image analysis plays a crucial role in cancer diagnosis. However, training a clinically applicable segmentation algorithm requires pathologists to engage in labour-intensive labelling. In contrast, weakly supervised learning…

Computer Vision and Pattern Recognition · Computer Science 2024-05-28 Gang Xu , Shuhao Wang , Lingyu Zhao , Xiao Chen , Tongwei Wang , Lang Wang , Zhenwei Luo , Dahan Wang , Zewen Zhang , Aijun Liu , Wei Ba , Zhigang Song , Huaiyin Shi , Dingrong Zhong , Jianpeng Ma

Motivation: Illumina DNA sequencing is now the predominant source of raw genomic data, and data volumes are growing rapidly. Bioinformatic analysis pipelines are having trouble keeping pace. A common bottleneck in such pipelines is the…

Genomics · Quantitative Biology 2014-09-09 Gregory G. Faust , Ira M. Hall