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Motivation: DNA methylation is an intensely studied epigenetic mark, yet its functional role is incompletely understood. Attempts to quantitatively associate average DNA methylation to gene expression yield poor correlations outside of the…

基因组学 · 定量生物学 2016-11-17 Chantriolnt-Andreas Kapourani , Guido Sanguinetti

DNA Methylation has been the most extensively studied epigenetic mark. Usually a change in the genotype, DNA sequence, leads to a change in the phenotype, observable characteristics of the individual. But DNA methylation, which happens in…

基因组学 · 定量生物学 2018-07-26 Soham Chatterjee , Archana Iyer , Satya Avva , Abhai Kollara , Malaikannan Sankarasubbu

DNA methylation is a well-studied genetic modification that regulates gene transcription of Eukaryotes. Its alternations have been recognized as a significant component of cancer development. In this study, we use the DNA methylation 450k…

组织与器官 · 定量生物学 2021-01-05 Shen Jia , Yulin Zhang , Yiming Mao , Jiawei Gao , Yixuan Chen , Yuxuan Jiang , Haochen Luo , Kebo Lv , Jionglong Su

DNA methylation is an important epigenetic mark that has been studied extensively for its regulatory role in biological processes and diseases. WGBS allows for genome-wide measurements of DNA methylation up to single-base resolutions, yet…

Many researches demonstrated that the DNA methylation, which occurs in the context of a CpG, has strong correlation with diseases, including cancer. There is a strong interest in analyzing the DNA methylation data to find how to distinguish…

基因组学 · 定量生物学 2020-01-29 Hong Yu , Zhanyu Ma

DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and understanding DNAme profiles offers considerable promise for…

Gene expression can be used to subtype breast cancer with improved prediction of risk of recurrence and treatment responsiveness over that obtained using routine immunohistochemistry (IHC). However, in the clinic, molecular profiling is…

计算机视觉与模式识别 · 计算机科学 2023-05-09 Raktim Kumar Mondol , Ewan K. A. Millar , Peter H Graham , Lois Browne , Arcot Sowmya , Erik Meijering

Recently, various deep learning methods have shown significant successes in medical image analysis, especially in the detection of cancer metastases in hematoxylin and eosin (H&E) stained whole-slide images (WSIs). However, in order to…

图像与视频处理 · 电气工程与系统科学 2023-03-21 Yinsheng He , Xingyu Li

Digital pathological analysis is run as the main examination used for cancer diagnosis. Recently, deep learning-driven feature extraction from pathology images is able to detect genetic variations and tumor environment, but few studies…

计算机视觉与模式识别 · 计算机科学 2022-04-28 Haojie Huang , Gongming Zhou , Xuejun Liu , Lei Deng , Chen Wu , Dachuan Zhang , Hui Liu

Bone metastasis analysis is a significant challenge in pathology and plays a critical role in determining patient quality of life and treatment strategies. The microenvironment and specific tissue structures are essential for pathologists…

计算机视觉与模式识别 · 计算机科学 2025-01-29 Yuxuan Chen , Jiawen Li , Huijuan Shi , Yang Xu , Tian Guan , Lianghui Zhu , Yonghong He , Anjia Han

Hypoxia occurs when tumour cells outgrow their blood supply, leading to regions of low oxygen levels within the tumour. Calculating hypoxia levels can be an important step in understanding the biology of tumours, their clinical progression…

计算机视觉与模式识别 · 计算机科学 2023-11-22 Petru Manescu , Joseph Geradts , Delmiro Fernandez-Reyes

DNA methylation is a well-studied genetic modification crucial to regulate the functioning of the genome. Its alterations play an important role in tumorigenesis and tumor-suppression. Thus, studying DNA methylation data may help biomarker…

基因组学 · 定量生物学 2018-04-16 Fabrizio Celli , Fabio Cumbo , Emanuel Weitschek

Molecular phenotyping by gene expression profiling is common in contemporary cancer research and in molecular diagnostics. However, molecular profiling remains costly and resource intense to implement, and is just starting to be introduced…

计算机视觉与模式识别 · 计算机科学 2023-09-04 Philippe Weitz , Yinxi Wang , Kimmo Kartasalo , Lars Egevad , Johan Lindberg , Henrik Grönberg , Martin Eklund , Mattias Rantalainen

The research reported in this paper identifies the epigenetic biomarker (methylation beta pattern) of breast cancer. Many cancers are triggered by abnormal gene expression levels caused by aberrant methylation of CpG sites in the DNA. In…

基因组学 · 定量生物学 2019-10-16 Maxim Vaysburd

A novel method to classify human cells is presented in this work based on the transform-domain method on DNA methylation data. DNA methylation profile variations are observed in human cells with the progression of disease stages, and the…

基因组学 · 定量生物学 2020-01-01 Xueyuan Zhao , Dario Pompili

Background: Recent assays for individual-specific genome-wide DNA methylation profiles have enabled epigenome-wide association studies to identify specific CpG sites associated with a phenotype. Computational prediction of CpG site-specific…

基因组学 · 定量生物学 2015-11-12 Weiwei Zhang , Tim D Spector , Panos Deloukas , Jordana T Bell , Barbara E Engelhardt

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

统计方法学 · 统计学 2017-10-20 Eric F. Lock , David B. Dunson

In this paper we propose network methodology to infer prognostic cancer biomarkers based on the epigenetic pattern DNA methylation. Epigenetic processes such as DNA methylation reflect environmental risk factors, and are increasingly…

应用统计 · 统计学 2016-08-02 Thomas E. Bartlett , Alexey Zaikin

Artificial intelligence methods including deep neural networks (DNN) can provide rapid molecular classification of tumors from routine histology with accuracy that matches or exceeds human pathologists. Discerning how neural networks make…

Domain generalization in computational histopathology is hindered by heterogeneity in whole slide images (WSIs), caused by variations in tissue preparation, staining, and imaging conditions across institutions. Unlike machine learning…

计算机视觉与模式识别 · 计算机科学 2025-09-03 Hikmat Khan , Syed Farhan Alam Zaidi , Pir Masoom Shah , Kiruthika Balakrishnan , Rabia Khan , Muhammad Waqas , Jia Wu
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