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This paper discusses the problem of identifying differentially expressed groups of genes from a microarray experiment. The groups of genes are externally defined, for example, sets of gene pathways derived from biological databases. Our…

Statistics Theory · Mathematics 2009-09-29 Bradley Efron , Robert Tibshirani

A number of statistical models have been successfully developed for the analysis of high-throughput data from a single source, but few methods are available for integrating data from different sources. Here we focus on integrating gene…

Single-cell RNA sequencing (scRNA-seq) data exhibit strong and reproducible statistical structure. This has motivated the development of large-scale foundation models, such as TranscriptFormer, that use transformer-based architectures to…

Genomics · Quantitative Biology 2026-02-19 Huan Souza , Pankaj Mehta

The existence of doublets is a key confounder in single-cell RNA sequencing (scRNA-seq) data analysis. Computational methods have been developed for detecting doublets from scRNA-seq data. We developed an R package DoubletCollection to…

Genomics · Quantitative Biology 2021-12-01 Nan Miles Xi , Jingyi Jessica Li

Estimation of genewise variance arises from two important applications in microarray data analysis: selecting significantly differentially expressed genes and validation tests for normalization of microarray data. We approach the problem by…

Statistics Theory · Mathematics 2010-11-11 Jianqing Fan , Yang Feng , Yue S. Niu

DNA microarrays are a relatively new technology that can simultaneously measure the expression level of thousands of genes. They have become an important tool for a wide variety of biological experiments. One of the most common goals of DNA…

Methodology · Statistics 2013-07-02 Eric Bair

Single-cell RNA sequencing (scRNA-seq) technology provides high-throughput gene expression data to study the cellular heterogeneity and dynamics of complex organisms. Graph neural networks (GNNs) have been widely used for automatic cell…

Machine Learning · Computer Science 2023-12-19 Rui Yang , Wenrui Dai , Chenglin Li , Junni Zou , Dapeng Wu , Hongkai Xiong

Next-generation sequencing technologies provide a revolutionary tool for generating gene expression data. Starting with a fixed RNA sample, they construct a library of millions of differentially abundant short sequence tags or "reads",…

Quantitative Methods · Quantitative Biology 2014-05-13 Dimitrios V. Vavoulis , Julian Gough

Anomaly detection is the process of finding data points that deviate from a baseline. In a real-life setting, anomalies are usually unknown or extremely rare. Moreover, the detection must be accomplished in a timely manner or the risk of…

Machine Learning · Computer Science 2019-04-26 Mariem Ben Fadhel , Kofi Nyarko

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

Quantitatively predicting phenotype variables by the expression changes in a set of candidate genes is of great interest in molecular biology but it is also a challenging task for several reasons. First, the collected biological…

Applications · Statistics 2017-07-21 Emilie Devijver , Mélina Gallopin , Emeline Perthame

Whole transcriptome sequencing is increasingly being used as a functional genomics tool to study non- model organisms. However, when the reference transcriptome used to calculate differential expression is incomplete, significant error in…

Genomics · Quantitative Biology 2013-03-12 Alexis Black Pyrkosz , Hans Cheng , C. Titus Brown

The detection of similarities between long DNA and protein sequences is studied using concepts of statistical physics. It is shown that mutual similarities can be detected by sequence alignment methods only if their amount exceeds a…

Condensed Matter · Physics 2009-10-28 Terence Hwa , Michael Lassig

Accurate phenotype prediction from RNA sequencing (RNA-seq) data is essential for diagnosis, biomarker discovery, and personalized medicine. Deep learning models have demonstrated strong potential to outperform classical machine learning…

Machine Learning · Computer Science 2026-03-10 Kevin Dradjat , Massinissa Hamidi , Blaise Hanczar

Discovering genes with similar functions across diverse biomedical contexts poses a significant challenge in gene representation learning due to data heterogeneity. In this study, we resolve this problem by introducing a novel model called…

Machine Learning · Computer Science 2023-10-05 Tianyu Liu , Yuge Wang , Rex Ying , Hongyu Zhao

Summary: We describe a tool for quantifying the uniformity of mapped reads in high-throughput sequencing experiments. Our statistic directly measures the uniformity of both read position and fragment length, and we explain how to compute a…

Genomics · Quantitative Biology 2013-10-22 Valerie Hower , Richard Starfield , Adam Roberts , Lior Pachter

Comparative transcriptomics has gained increasing popularity in genomic research thanks to the development of high-throughput technologies including microarray and next-generation RNA sequencing that have generated numerous transcriptomic…

Quantitative Methods · Quantitative Biology 2021-12-01 Wei Vivian Li , Yiling Chen , Jingyi Jessica Li

The study of functional genomics--particularly in non-model organisms has been dramatically improved over the last few years by use of transcriptomes and RNAseq. While these studies are potentially extremely powerful, a computationally…

Genomics · Quantitative Biology 2013-07-25 Matthew D MacManes , Michael B Eisen

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

Histopathology whole-slide images (WSIs) are routinely acquired in clinical practice and contain rich tissue morphology but lack direct molecular architecture and functional programs defining pathological states, whereas RNA sequencing…

Computer Vision and Pattern Recognition · Computer Science 2026-05-13 Yaxuan Song , Jianan Fan , Tianyi Wang , Qiuyue Hu , Hang Chang , Heng Huang , Weidong Cai
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