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We develop statistically based methods to detect single nucleotide DNA mutations in next generation sequencing data. Sequencing generates counts of the number of times each base was observed at hundreds of thousands to billions of genome…

Applications · Statistics 2012-10-01 Omkar Muralidharan , Georges Natsoulis , John Bell , Hanlee Ji , Nancy R. Zhang

Motivation: Measurements of gene expression over time enable the reconstruction of transcriptional networks. However, Bayesian networks and many other current reconstruction methods rely on assumptions that conflict with the differential…

Molecular Networks · Quantitative Biology 2009-07-02 D. R. Bickel , Z. Montazeri , P. -C. Hsieh , M. Beatty , S. J. Lawit , N. J. Bate

RNA-Seq analysis has revolutionized researchers' understanding of the transcriptome in biological research. Assessing the differences in transcriptomic profiles between tissue samples or patient groups enables researchers to explore the…

Urothelial cell carcinoma (UCC) is the ninth most common cancer that accounts for 4.7% of all the new cancer cases globally. UCC development and progression are due to complex and stochastic genetic programmes. To study the cascades of…

Gene expression analysis is a critical method for cancer classification, enabling precise diagnoses through the identification of unique molecular signatures associated with various tumors. Identifying cancer-specific genes from gene…

Quantitative Methods · Quantitative Biology 2024-10-11 Farzana Tabassum , Sabrina Islam , Siana Rizwan , Masrur Sobhan , Tasnim Ahmed , Sabbir Ahmed , Tareque Mohmud Chowdhury

RNA velocity is a model of gene expression dynamics designed to analyze single-cell RNA sequencing (scRNA-seq) data, and it has recently gained significant attention. However, despite its popularity, the model has raised several concerns,…

Applications · Statistics 2025-05-07 Elena Sabbioni , Enrico Bibbona , Gianluca Mastrantonio , Guido Sanguinetti

Gene expression is significantly stochastic making modeling of genetic networks challenging. We present an approximation that allows the calculation of not only the mean and variance but also the distribution of protein numbers. We assume…

Molecular Networks · Quantitative Biology 2008-12-18 Vahid Shahrezaei , Peter S. Swain

RNA design shows growing applications in synthetic biology and therapeutics, driven by the crucial role of RNA in various biological processes. A fundamental challenge is to find functional RNA sequences that satisfy given structural…

Biomolecules · Quantitative Biology 2024-04-18 Han Huang , Ziqian Lin , Dongchen He , Liang Hong , Yu Li

In the face of rapidly accumulating genomic data, our understanding of the RNA regulatory code remains incomplete. Recent self-supervised methods in other domains have demonstrated the ability to learn rules underlying the data-generating…

Machine Learning · Computer Science 2023-10-18 Philip Fradkin , Ruian Shi , Bo Wang , Brendan Frey , Leo J. Lee

Single-cell RNA-Sequencing (scRNA-Seq) is a revolutionary technique for discovering and describing cell types in heterogeneous tissues, yet its measurement of expression often suffers from large systematic bias. A major source of this bias…

Quantitative Methods · Quantitative Biology 2016-05-17 Martin Barron , Jun Li

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) has enabled the accurate estimation of gene expression at individual isoform level. However, systematic biases introduced during the sequencing and mapping processes as well as…

Methodology · Statistics 2013-10-02 Hui Jiang , Julia Salzman

Next-generation sequencing (NGS) to profile temporal changes in living systems is gaining more attention for deriving better insights into the underlying biological mechanisms compared to traditional static sequencing experiments.…

Motivation: Assigning RNA-seq reads to their transcript of origin is a fundamental task in transcript expression estimation. Where ambiguities in assignments exist due to transcripts sharing sequence, e.g. alternative isoforms or alleles,…

Quantitative Methods · Quantitative Biology 2015-07-01 James Hensman , Panagiotis Papastamoulis , Peter Glaus , Antti Honkela , Magnus Rattray

In large scale multiple testing problems, a two-class empirical Bayes approach can be used to control the false discovery rate (Fdr) for the entire array of hypotheses under study. A sample splitting step is incorporated to modify that…

Computation · Statistics 2019-12-13 Paramita Chakraborty , Chong Ma , John Grego , James Lynch

On June 25th, 2018, Huang et al. published a computational method SAVER on Nature Methods for imputing dropout gene expression levels in single cell RNA sequencing (scRNA-seq) data. Huang et al. performed a set of comprehensive benchmarking…

Applications · Statistics 2019-08-21 Wei Vivian Li , Jingyi Jessica Li

We have developed a statistical method named IsoDOT to assess differential isoform expression (DIE) and differential isoform usage (DIU) using RNA-seq data. Here isoform usage refers to relative isoform expression given the total expression…

Normalization is a critical step in quantitative analyses of biological processes. Recent works show that cross-platform integration and normalization enable machine learning (ML) training on RNA microarray and RNA-seq data, but no…

Quantitative Methods · Quantitative Biology 2025-05-30 Fei Deng , Catherine H Feng , Nan Gao , Lanjing Zhang

Recent advances in next-generation sequencing technologies have facilitated the use of deoxyribonucleic acid (DNA) as a novel covert channels in steganography. There are various methods that exist in other domains to detect hidden messages…

Machine Learning · Computer Science 2018-10-08 Ho Bae , Byunghan Lee , Sunyoung Kwon , Sungroh Yoon

Sequencing by synthesis is used in many next-generation DNA sequencing technologies. Some of the technologies, especially those exploring the principle of single-molecule sequencing, allow incomplete nucleotide incorporation in each cycle.…

Genomics · Quantitative Biology 2024-05-28 Yong Kong

In the analysis of single-cell RNA sequencing data, researchers often characterize the variation between cells by estimating a latent variable, such as cell type or pseudotime, representing some aspect of the individual cell's state. They…

Methodology · Statistics 2022-10-19 Anna Neufeld , Lucy L. Gao , Joshua Popp , Alexis Battle , Daniela Witten