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Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder characterized by progressive cognitive decline and widespread epigenetic dysregulation in the brain. DNA methylation, as a stable yet dynamic epigenetic modification,…

Genomics · Quantitative Biology 2026-01-05 Gang Qu , Guanghao Li , Zhongming Zhao

When analyzing communities of microorganisms from their sequenced DNA, an important task is taxonomic profiling: enumerating the presence and relative abundance of all organisms, or merely of all taxa, contained in the sample. This task can…

Genomics · Quantitative Biology 2020-01-24 Simon Foucart , David Koslicki

Sensitive and reliable methylation assay is important for oncogentic studies and clinical applications. Here, a new methylation assay was developed by the use of adapter-dependent adapter in library preparation. This new assay avoids the…

Biomolecules · Quantitative Biology 2024-10-08 Jia Zhang , Peng Qi , Li Xiao , Mengxi Yuan , Jun Chuan , Yaling Zeng , Li-mei Lin , Yue Gu , Yan Zhang , Duan-fang Liao , Kai Li

Bayesian neural networks (BNNs) have received an increased interest in the last years. In BNNs, a complete posterior distribution of the unknown weight and bias parameters of the network is produced during the training stage. This…

Machine Learning · Computer Science 2023-04-14 Yunshi Huang , Emilie Chouzenoux , Victor Elvira , Jean-Christophe Pesquet

Methylation of CpG dinucleotides is a prevalent epigenetic modification that is required for proper development in vertebrates, and changes in CpG methylation are essential to cellular differentiation. Genome-wide DNA methylation assays…

Genomics · Quantitative Biology 2014-08-28 John A. Capra , Dennis Kostka

A key focus in current cancer research is the discovery of cancer biomarkers that allow earlier detection with high accuracy and lower costs for both patients and hospitals. Blood samples have long been used as a health status indicator,…

Genomics · Quantitative Biology 2018-12-24 Xi Chen , Jin Xie , Qingcong Yuan

Background: The analysis of DNA methylation is a key component in the development of personalized treatment approaches. A common way to measure DNA methylation is the calculation of beta values, which are bounded variables of the form M =…

Methodology · Statistics 2016-07-26 Leonie Weinhold , Simone Wahl , Matthias Schmid

A common approach to quantifying DNA involves repeated cycles of DNA amplification. This approach, employed by the polymerase chain reaction (PCR), produces outputs that are corrupted by amplification noise, making it challenging to…

Quantitative Methods · Quantitative Biology 2023-01-06 Abdoelnaser M Degoot , Wilfred Ndifon

Statistical analysis of DNA mixtures is known to pose computational challenges due to the enormous state space of possible DNA profiles. We propose a Bayesian network representation for genotypes, allowing computations to be performed…

Methodology · Statistics 2014-02-21 Therese Graversen , Steffen Lauritzen

DNA-based storage offers unprecedented density and durability, but its scalability is fundamentally limited by the efficiency of parallel strand synthesis. Existing methods either allow unconstrained nucleotide additions to individual…

Information Theory · Computer Science 2025-10-27 Boaz Moav , Ryan Gabrys , Eitan Yaakobi

Deep learning has been the engine powering many successes of data science. However, the deep neural network (DNN), as the basic model of deep learning, is often excessively over-parameterized, causing many difficulties in training,…

Machine Learning · Statistics 2021-03-09 Yan Sun , Qifan Song , Faming Liang

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…

Applications · Statistics 2016-08-02 Thomas E. Bartlett , Alexey Zaikin

Over the last years, huge resources of biological and medical data have become available for research. This data offers great chances for machine learning applications in health care, e.g. for precision medicine, but is also challenging to…

Quantitative Methods · Quantitative Biology 2016-12-21 Lisa Handl , Adrin Jalali , Michael Scherer , Nico Pfeifer

DNA emerges as a promising medium for the exponential growth of digital data due to its density and durability. This study extends recent research by addressing the \emph{coverage depth problem} in practical scenarios, exploring optimal…

Information Theory · Computer Science 2024-02-01 Hadas Abraham , Rayn Gabrys , Eitan Yaakobi

The widespread availability of high-dimensional biological data has made the simultaneous screening of many biological characteristics a central problem in computational biology and allied sciences. While the dimensionality of such datasets…

Methodology · Statistics 2023-03-10 Nima S. Hejazi , Philippe Boileau , Mark J. van der Laan , Alan E. Hubbard

DNA methylation is an epigenetic mechanism whose important role in development has been widely recognized. This epigenetic modification results in heritable changes in gene expression not encoded by the DNA sequence. The underlying…

Genomics · Quantitative Biology 2017-07-11 Alexander Lück , Pascal Giehr , Jörn Walter , Verena Wolf

Mixture interpretation is a central challenge in forensic science, where evidence often contains contributions from multiple sources. In the context of DNA analysis, biological samples recovered from crime scenes may include genetic…

Methodology · Statistics 2025-05-05 Taylor Petty , Jan Hannig , Hari Iyer

Gene selection plays a pivotal role in oncology research for improving outcome prediction accuracy and facilitating cost-effective genomic profiling for cancer patients. This paper introduces two gene selection strategies for deep…

Genomics · Quantitative Biology 2024-03-05 Akhila Krishna , Ravi Kant Gupta , Pranav Jeevan , Amit Sethi

RNA-Seq data characteristically exhibits large variances, which need to be appropriately accounted for in the model. We first explore the effects of this variability on the maximum likelihood estimator (MLE) of the overdispersion parameter…

Methodology · Statistics 2015-12-03 Luis Leon-Novelo , Claudio Fuentes , Sarah Emerson

Deep sequencing has become one of the most popular tools for transcriptome profiling in biomedical studies. While an abundance of computational methods exists for "normalizing" sequencing data to remove unwanted between-sample variations…

Genomics · Quantitative Biology 2022-01-14 Yannick Düren , Johannes Lederer , Li-Xuan Qin