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Rapid technological advances have allowed for molecular profiling across multiple omics domains from a single sample for clinical decision making in many diseases, especially cancer. As tumor development and progression are dynamic…

统计方法学 · 统计学 2022-02-11 Dongyan Yan , Subharup Guha

Early detection of melanoma, a potentially lethal type of skin cancer with high prevalence worldwide, improves patient prognosis. In retrospective studies, artificial intelligence (AI) has proven to be helpful for enhancing melanoma…

The detection of somatic single nucleotide variants is a crucial component to the characterization of the cancer genome. Mutation calling algorithms thus far have focused on comparing the normal and tumor genomes from the same individual.…

基因组学 · 定量生物学 2015-06-18 Amie J. Radenbaugh , Singer Ma , Adam Ewing , Joshua Stuart , Eric Collisson , Jingchun Zhu , David Haussler

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…

基因组学 · 定量生物学 2013-11-13 Haoyang Cai , Nitin Kumar , Ni Ai , Saumya Gupta , Prisni Rath , Michael Baudis

High-throughput omics profiling advancements have greatly enhanced cancer patient stratification. However, incomplete data in multi-omics integration presents a significant challenge, as traditional methods like sample exclusion or…

基因组学 · 定量生物学 2024-01-17 Shihao Ma , Andy G. X. Zeng , Benjamin Haibe-Kains , Anna Goldenberg , John E Dick , Bo Wang

In order to support the creation of reliable machine learning models for anomaly detection, this project focuses on preprocessing, enhancing, and organizing a medical imaging dataset. There are two classifications in the dataset: normal and…

图像与视频处理 · 电气工程与系统科学 2024-11-20 Dharanidharan S , Suhitha Renuka S , Ajishi Singh , Sheena Christabel Pravin

In cancer research, high-throughput profiling has been extensively conducted. In recent studies, the integrative analysis of data on multiple cancer patient groups/subgroups has been conducted. Such analysis has the potential to reveal the…

统计方法学 · 统计学 2022-12-01 Yifan Sun , Zhengyang Sun , Yu Jiang , Yang Li , Shuangge Ma

Colorectal cancer (CRC) remains the third most prevalent malignancy globally, with approximately 154,000 new cases and 54,000 projected deaths anticipated for 2025. The recent advancement of foundation models in computational pathology has…

计算机视觉与模式识别 · 计算机科学 2025-10-17 Usama Sajjad , Abdul Rehman Akbar , Ziyu Su , Deborah Knight , Wendy L. Frankel , Metin N. Gurcan , Wei Chen , Muhammad Khalid Khan Niazi

We present Glioma C6, a new open dataset for instance segmentation of glioma C6 cells, designed as both a benchmark and a training resource for deep learning models. The dataset comprises 75 high-resolution phase-contrast microscopy images…

计算机视觉与模式识别 · 计算机科学 2025-11-11 Roman Malashin , Svetlana Pashkevich , Daniil Ilyukhin , Arseniy Volkov , Valeria Yachnaya , Andrey Denisov , Maria Mikhalkova

Cytology slides are essential tools in diagnosing and staging cancer, but their analysis is time-consuming and costly. Foundation models have shown great potential to assist in these tasks. In this paper, we explore how existing foundation…

图像与视频处理 · 电气工程与系统科学 2024-11-25 Manon Dausort , Tiffanie Godelaine , Maxime Zanella , Karim El Khoury , Isabelle Salmon , Benoît Macq

Diagnosing and treating skin diseases require advanced visual skills across domains and the ability to synthesize information from multiple imaging modalities. While current deep learning models excel at specific tasks like skin cancer…

Proteomics data is essential to pathogenic understanding of a disease phenotype. In cancer, analysis of molecular signatures enables precision medicine through the identification of biological processes that drive individualized tumor…

定量方法 · 定量生物学 2025-09-30 Irsyad Adam , Zekai Chen , David Laub , Shaun Porwal , Arda Pekis , Kevin Brown

A variety of genome-wide profiling techniques are available to probe complementary aspects of genome structure and function. Integrative analysis of heterogeneous data sources can reveal higher-level interactions that cannot be detected…

计算工程、金融与科学 · 计算机科学 2012-03-23 Leo Lahti , Martin Schäfer , Hans-Ulrich Klein , Silvio Bicciato , Martin Dugas

Primary brain tumors including gliomas continue to pose significant management challenges to clinicians. While the presentation, the pathology, and the clinical course of these lesions are variable, the initial investigations are usually…

图像与视频处理 · 电气工程与系统科学 2020-04-13 Weina Jin , Mostafa Fatehi , Kumar Abhishek , Mayur Mallya , Brian Toyota , Ghassan Hamarneh

Peripheral blood smears remain a cornerstone in the diagnosis of hematological neoplasms, offering rapid and valuable insights that inform subsequent diagnostic steps. However, since neoplastic transformations typically arise in the bone…

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…

基因组学 · 定量生物学 2025-02-07 Zehui Li , Vallijah Subasri , Yifei Shen , Dongsheng Li , Yiren Zhao , Guy-Bart Stan , Caihua Shan

Gene set analysis (GSA) is a foundational approach for interpreting genomic data of diseases by linking genes to biological processes. However, conventional GSA methods overlook clinical context of the analyses, often generating long lists…

Background: The delineation of genomic copy number abnormalities (CNAs) from cancer samples has been instrumental for identification of tumor suppressor genes and oncogenes and proven useful for clinical marker detection. An increasing…

基因组学 · 定量生物学 2013-04-04 Haoyang Cai , Nitin Kumar , Michael Baudis

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…

Genome annotation is essential for understanding the functional elements within genomes. While automated methods are indispensable for processing large-scale genomic data, they often face challenges in accurately predicting gene structures…

基因组学 · 定量生物学 2025-04-01 Xiaomei Li , Alex Whan , Meredith McNeil , David Starns , Jessica Irons , Samuel C. Andrew , Rad Suchecki