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We make use of ideas from the theory of complex networks to implement a machine learning classification of human DNA methylation data, that carry signatures of cancer development. The data were obtained from patients with various kinds of…

Genomics · Quantitative Biology 2017-02-22 Alexander Karsakov , Thomas Bartlett , Iosif Meyerov , Alexey Zaikin , Mikhail Ivanchenko

Mutational signatures are patterns of somatic mutations in tumor genomes that provide insights into underlying mutagenic processes and cancer origin. Developing reliable methods for their estimation is of growing importance in cancer…

Applications · Statistics 2025-02-04 Blake Hansen , Isabella N. Grabski , Giovanni Parmigiani , Roberta De Vito

Cell-free DNA (cfDNA) analysis is a powerful, minimally invasive tool for monitoring disease progression, treatment response, and early detection. A major challenge, however, is accurately determining the tissue of origin, especially in…

Genomics · Quantitative Biology 2025-06-03 Keng-Jung Lee , Dharanya Sampath , Konstantinos Mavrommatis

While we once thought of cancer as single monolithic diseases affecting a specific organ site, we now understand that there are many subtypes of cancer defined by unique patterns of gene mutations. These gene mutational data, which can be…

Quantitative Methods · Quantitative Biology 2017-03-07 Jipeng Qiang , Wei Ding , John Quackenbush , Ping Chen

DNA methylation is a significant driver of cell-type heterogeneity and has been implicated in various regulatory processes ranging from cell differentiation to imprinting. As the methyl group is embedded in the DNA molecule, assessing DNA…

Quantitative Methods · Quantitative Biology 2023-04-13 Aleksa Krsmanovic

Background and Objective: Gastric cancer has turned out to be the fifth most common cancer globally, and early detection of gastric cancer is essential to save lives. Histopathological examination of gastric cancer is the gold standard for…

Computer Vision and Pattern Recognition · Computer Science 2021-11-03 Weiming Hu , Chen Li , Xiaoyan Li , Md Mamunur Rahaman , Jiquan Ma , Yong Zhang , Haoyuan Chen , Wanli Liu , Changhao Sun , Yudong Yao , Hongzan Sun , Marcin Grzegorzek

The Galleri (R) (GRAIL) multi-cancer early detection test measures circulating tumour DNA (ctDNA) to predict the presence of more than 50 different cancers, from a blood test. If sensitivity of the test to detect early-stage cancers is…

Methodology · Statistics 2025-05-01 Sofia Dias , Yiwen Liu , Stephen Palmer , Marta O Soares

We develop Bayesian inference methods for a recently-emerging type of epigenetic data to study the transmission fidelity of DNA methylation patterns over cell divisions. The data consist of parent-daughter double-stranded DNA methylation…

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…

Genomics · Quantitative Biology 2016-11-17 Chantriolnt-Andreas Kapourani , Guido Sanguinetti

Understanding the association between dietary patterns and health outcomes, such as the cancer risk, is crucial to inform public health guidelines and shaping future dietary interventions. However, dietary intake data present several…

Methodology · Statistics 2025-10-10 Blake Hansen , Dafne Zorzetto , Valeria Edefonti , Roberta De Vito

We present a nonparametric Bayesian method for disease subtype discovery in multi-dimensional cancer data. Our method can simultaneously analyse a wide range of data types, allowing for both agreement and disagreement between their…

Genomics · Quantitative Biology 2013-04-16 Richard S. Savage , Zoubin Ghahramani , Jim E. Griffin , Paul Kirk , David L. Wild

Precision medicine aims for personalized prognosis and therapeutics by utilizing recent genome-scale high-throughput profiling techniques, including next-generation sequencing (NGS). However, translating NGS data faces several challenges.…

Interrogating the evolution of biological changes at early stages of life requires longitudinal profiling of molecules, such as DNA methylation, which can be challenging with children. We introduce a probabilistic and longitudinal machine…

Genomics · Quantitative Biology 2025-04-24 Arthur Leroy , Ai Ling Teh , Frank Dondelinger , Mauricio A. Alvarez , Dennis Wang

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…

Genomics · Quantitative Biology 2019-10-16 Maxim Vaysburd

Introduction : Mass spectrometry approaches are very attractive to detect protein panels in a sensitive and high speed way. MS can be coupled to many proteomic separation techniques. However, controlling technological variability on these…

Genomics · Quantitative Biology 2012-02-23 Pierre Grangeat , Pascal Szacherski , Laurent Gerfault , Jean-François Giovannelli

Identifying disease-associated changes in DNA methylation can help to gain a better understanding of disease etiology. Bisulfite sequencing technology allows the generation of methylation profiles at single base of DNA. We previously…

Exploratory cancer drug studies test multiple tumor cell lines against multiple candidate drugs. The goal in each paired (cell line, drug) experiment is to map out the dose-response curve of the cell line as the dose level of the drug…

Machine Learning · Statistics 2021-03-23 Wesley Tansey , Christopher Tosh , David M. Blei

Identifying differentially methylated regions is an important task in epigenome-wide association studies, where differential signals often arise across groups of neighboring CpG sites. Many existing methods detect differentially methylated…

Applications · Statistics 2026-02-05 Zhexuan Yang , Duchwan Ryu , Feng Luan

The recent proliferation of high-dimensional data, such as electronic health records and genetics data, offers new opportunities to find novel predictors of outcomes. Presented with a large set of candidate features, interest often lies in…

Methodology · Statistics 2024-09-24 Michael J. Martens , Anjishnu Banerjee , Xinran Qi , Yushu Shi

Coarse-grained (CG) models play a crucial role in the study of protein structures, protein thermodynamic properties, and protein conformation dynamics. Due to the information loss in the coarse-graining process, backmapping from CG to…

Quantitative Methods · Quantitative Biology 2023-11-30 Yikai Liu , Ming Chen , Guang Lin