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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…

Modern cancer genomics datasets involve widely varying sizes and scales, measurement variables, and correlation structures. A fundamental analytical goal in these high-throughput studies is the development of general statistical techniques…

Methodology · Statistics 2022-04-12 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a lower cost making such testing accessible to a broader population. Thus, more patients carrying pathogenic germline mutations in various…

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Epigenetic observations are represented by the total number of reads from a given pool of cells and the number of methylated reads, making it reasonable to model this data by a binomial distribution. There are numerous factors that can…

Applications · Statistics 2020-04-29 Aliaksandr Hubin , Geir O Storvik , Paul E Grini , Melinka A Butenko

Significant advances in biotechnology have allowed for simultaneous measurement of molecular data points across multiple genomic and transcriptomic levels from a single tumor/cancer sample. This has motivated systematic approaches to…

It has been shown that a random-effects framework can be used to test the association between a gene's expression level and the number of DNA copies of a set of genes. This gene-set modelling framework was later applied to find associations…

Methodology · Statistics 2015-10-09 Renée Menezes , Leila Mohammadi , Jelle Goeman , Judith Boer

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

Cancer development is associated with aberrant DNA methylation, including increased stochastic variability. Statistical tests for discovering cancer methylation biomarkers have focused on changes in mean methylation. To improve the power of…

Methodology · Statistics 2023-06-27 James Y. Dai , Heng Chen , Xiaoyu Wang , Wei Sun , Ying Huang , William M. Grady , Ziding Feng

DNA methylation datasets in cancer studies are comprised of measurements on a large number of genomic locations called cytosine-phosphate-guanine (CpG) sites with complex correlation structures. A fundamental goal of these studies is the…

Methodology · Statistics 2023-05-05 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

DNA methylation is an epigenetic mechanism that regulates gene expression by adding methyl groups to DNA. Abnormal methylation patterns can disrupt gene expression and have been linked to cancer development. To quantify DNA methylation,…

Image and Video Processing · Electrical Eng. & Systems 2025-04-09 Manahil Raza , Muhammad Dawood , Talha Qaiser , Nasir M. Rajpoot

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…

Variable selection is crucial in high-dimensional omics-based analyses, since it is biologically reasonable to assume only a subset of non-noisy features contributes to the data structures. However, the task is particularly hard in an…

Methodology · Statistics 2022-03-22 Emilie Eliseussen , Thomas Fleischer , Valeria Vitelli

Motivated by the important problem of detecting association between genetic markers and binary traits in genome-wide association studies, we present a novel Bayesian model that establishes a hierarchy between markers and genes by defining…

Applications · Statistics 2016-06-22 Ian Johnston , Timothy Hancock , Hiroshi Mamitsuka , Luis Carvalho

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…

Tissues and Organs · Quantitative Biology 2021-01-05 Shen Jia , Yulin Zhang , Yiming Mao , Jiawei Gao , Yixuan Chen , Yuxuan Jiang , Haochen Luo , Kebo Lv , Jionglong Su

This article concerns testing for equality of distribution between groups. We focus on screening variables with shared distributional features such as common support, modes and patterns of skewness. We propose a Bayesian testing method…

Methodology · Statistics 2016-02-19 Eric F. Lock , David B. Dunson

Motivation: Epigenetic heterogeneity within a tumour can play an important role in tumour evolution and the emergence of resistance to treatment. It is increasingly recognised that the study of DNA methylation (DNAm) patterns along the…

Quantitative Methods · Quantitative Biology 2017-02-21 James E. Barrett , Andrew Feber , Javier Herrero , Miljana Tanic , Gareth Wilson , Charles Swanton , Stephan Beck

In Cowell et al. (2007), a Bayesian network for analysis of mixed traces of DNA was presented using gamma distributions for modelling peak sizes in the electropherogram. It was demonstrated that the analysis was sensitive to the choice of a…

Methodology · Statistics 2013-06-21 Therese Graversen , Steffen Lauritzen

Clustering of proteins is of interest in cancer cell biology. This article proposes a hierarchical Bayesian model for protein (variable) clustering hinging on correlation structure. Starting from a multivariate normal likelihood, we enforce…

Computation · Statistics 2022-02-09 Riddhi Pratim Ghosh , Arnab Kumar Maity , Mohsen Pourahmadi , Bani K. Mallick

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
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