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RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing may be involved in malfunctions at…

Applications · Statistics 2015-12-11 David Rossell , Camille Stephan-Otto Attolini , Manuel Kroiss , Almond Stöcker

The study of high-throughput genomic profiles from a pharmacogenomics viewpoint has provided unprecedented insights into the oncogenic features modulating drug response. A recent screening of ~1,000 cancer cell lines to a collection of…

Cluster analysis of biological samples using gene expression measurements is a common task which aids the discovery of heterogeneous biological sub-populations having distinct mRNA profiles. Several model-based clustering algorithms have…

Methodology · Statistics 2012-01-30 Alberto Cozzini , Ajay Jasra , Giovanni Montana

Motivation: Driver (epi)genomic alterations underlie the positive selection of cancer subpopulations, which promotes drug resistance and relapse. Even though substantial heterogeneity is witnessed in most cancer types, mutation accumulation…

In this paper we propose a Bayesian approach for inference about dependence of high throughput gene expression. Our goals are to use prior knowledge about pathways to anchor inference about dependence among genes; to account for this…

Applications · Statistics 2012-06-29 Donatello Telesca , Peter Müller , Giovanni Parmigiani , Ralph S. Freedman

We study the challenges of applying deep learning to gene expression data. We find experimentally that there exists non-linear signal in the data, however is it not discovered automatically given the noise and low numbers of samples used in…

Genomics · Quantitative Biology 2018-06-20 Francis Dutil , Joseph Paul Cohen , Martin Weiss , Georgy Derevyanko , Yoshua Bengio

DNA microarray experiments, a well-established experimental technique, aim at understanding the function of genes in some biological processes. One of the most common experiments in functional genomics research is to compare two groups of…

Methodology · Statistics 2007-08-22 Javier Cabrera , Ching-Ray Yu

Isoforms are mRNAs produced from the same gene site in the phenomenon called Alternative Splicing. Studies have shown that more than 95% of human multi-exon genes have undergone alternative splicing. Although there are few changes in mRNA…

Genomics · Quantitative Biology 2023-04-26 Sara Ghazanfari , Ali Rasteh , Seyed Abolfazl Motahari , Mahdieh Soleymani Baghshah

Copula models have been widely used to model the dependence between continuous random variables, but modeling count data via copulas has recently become popular in the statistics literature. Spearman's rho is an appropriate and effective…

Methodology · Statistics 2020-12-21 Hadi Safari-Katesari , S. Yaser Samadi , Samira Zaroudi

Predicting drug responses using genetic and transcriptomic features is crucial for enhancing personalized medicine. In this study, we implemented an ensemble of machine learning algorithms to analyze the correlation between genetic and…

Genomics · Quantitative Biology 2025-07-04 Johannes Schlüter , Alexander Schönhuth

Over the past decades, statisticians and machine-learning researchers have developed literally thousands of new tools for the reduction of high-dimensional data in order to identify the variables most responsible for a particular trait.…

Machine Learning · Statistics 2012-05-31 Chamont Wang , Jana Gevertz , Chaur-Chin Chen , Leonardo Auslender

Inherent stochasticity in gene expression leads to distributions of mRNA copy numbers in a population of identical cells. These distributions are determined primarily by the multitude of states of a gene promoter, each driving transcription…

Molecular Networks · Quantitative Biology 2020-06-16 Jaroslav Albert

The influence of decoherence and bonding on the linear conductance of single double-stranded DNA molecules is examined by fitting a phenomenological statistical model developed recently (EPJB {\bf 68}, 237 (2009)) to experimental results.…

Soft Condensed Matter · Physics 2010-09-30 M. Zilly , O. Ujsaghy , D. E. Wolf

Mutual correlation between segments of DNA or protein sequences can be detected by Smith-Waterman local alignments. We present a statistical analysis of alignment of such sequences, based on a recent scaling theory. A new fidelity measure…

Condensed Matter · Physics 2007-05-23 Rolf Olsen , Terence Hwa , Michael Lassig

Building prediction models for outcomes of clinical relevance when only a limited number of mutational features are available causes considerable challenges due to the sparseness and low-dimensionality of the data. In this article, we…

Genomics · Quantitative Biology 2022-12-13 Maya Ramchandran , Maayan Baron

The influence of tension on DNA looping has been studied both experimentally and theoretically in the past. However, different theoretical models have yielded different predictions, leaving uncertainty about their validity. We briefly…

Statistical Mechanics · Physics 2025-01-17 Wout Laeremans , Wouter G Ellenbroek

Although convolutional neural networks (CNNs) currently dominate competitions on image segmentation, for neuroimaging analysis tasks, more classical generative approaches based on mixture models are still used in practice to parcellate…

Computer Vision and Pattern Recognition · Computer Science 2019-05-29 Mikael Brudfors , Yaël Balbastre , John Ashburner

The exploration of cellular heterogeneity within the tumor microenvironment (TME) via single-cell RNA sequencing (scRNA-seq) is essential for understanding cancer progression and response to therapy. Current scRNA-seq approaches, however,…

Genomics · Quantitative Biology 2025-02-06 Yu-An Huang , Yue-Chao Li , Hai-Ru You , Jie Pan , Xiyue Cao , Xinyuan Li , Zhi-An Huang , Zhu-Hong You

This paper examines two methods for finding whether long-range correlations exist in DNA: a fractal measure and a mutual information technique. We evaluate the performance and implications of these methods in detail. In particular we…

Populations and Evolution · Quantitative Biology 2007-05-23 Matthew J. Berryman , Andrew Allison , Derek Abbott

We introduce a model of DNA sequence evolution which can account for biases in mutation rates that depend on the identity of the neighboring bases. An analytic solution for this class of non-equilibrium models is developed by adopting…

Biological Physics · Physics 2007-05-23 Peter F. Arndt , Christopher B. Burge , Terence Hwa
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