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One of the most popular tools for large scale gene expression studies are high-density oligonucleotide (GeneChip(R)) arrays. These currently have 16-20 small probe cells (``features'') for evaluating the transcript abundance of each gene.…

Biological Physics · Physics 2007-05-23 Felix Naef , Daniel A. Lim , Nila Patil , Marcelo O. Magnasco

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput…

Genomics · Quantitative Biology 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

We consider multivariate two-sample tests of means, where the location shift between the two populations is expected to be related to a known graph structure. An important application of such tests is the detection of differentially…

Quantitative Methods · Quantitative Biology 2014-05-16 Laurent Jacob , Pierre Neuvial , Sandrine Dudoit

Stochastic Process Model has many applications in analysis of longitudinal biodemographic data. Such data contain various physiological variables (sometimes known as covariates). It also can potentially contain genetic information available…

Populations and Evolution · Quantitative Biology 2016-05-31 Ilya Zhbannikov , Konstantin Arbeev , Anatoliy Yashin

RNA-Seq is rapidly becoming the standard technology for transcriptome analysis. Fundamental to many of the applications of RNA-Seq is the quantification problem, which is the accurate measurement of relative transcript abundances from the…

Genomics · Quantitative Biology 2011-05-16 Lior Pachter

Recent advances in molecular biology allow the quantification of the transcriptome and scoring transcripts as differentially or equally expressed between two biological conditions. Although these two tasks are closely linked, the available…

Methodology · Statistics 2017-02-08 Panagiotis Papastamoulis , Magnus Rattray

The expression levels of many thousands of genes can be measured simultaneously by DNA microarrays (chips). This novel experimental tool has revolutionized research in molecular biology and generated considerable excitement. A typical…

Biological Physics · Physics 2007-05-23 Eytan Domany

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Single-cell RNA sequencing (scRNA-seq) has revolutionized our ability to analyze gene expression at the resolution of individual cells, providing unprecedented insights into cellular heterogeneity and complex biological systems. This paper…

Other Quantitative Biology · Quantitative Biology 2024-06-11 Megha Patel , Nimish Magre , Himanshi Motwani , Nik Bear Brown

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

We explore a Markov model used in the analysis of gene expression, involving the bursty production of pre-mRNA, its conversion to mature mRNA, and its consequent degradation. We demonstrate that the integration used to compute the solution…

Methodology · Statistics 2020-09-09 Gennady Gorin , Lior Pachter

In biological research machine learning algorithms are part of nearly every analytical process. They are used to identify new insights into biological phenomena, interpret data, provide molecular diagnosis for diseases and develop…

Identification and quantification of condition-specific transcripts using RNA-Seq is vital in transcriptomics research. While initial efforts using mathematical or statistical modeling of read counts or per-base exonic signal have been…

Quantitative Methods · Quantitative Biology 2013-02-26 Tin Chi Nguyen , Nan Deng , Dongxiao Zhu

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

Global expression analyses using microarray technologies are becoming more common in genomic research, therefore, new statistical challenges associated with combining information from multiple studies must be addressed. In this paper we…

Applications · Statistics 2013-01-29 Jia Li , George C. Tseng

Background: High-throughput techniques bring novel tools but also statistical challenges to genomic research. Identifying genes with differential expression between different species is an effective way to discover evolutionarily conserved…

Methodology · Statistics 2018-10-05 Yan Zhou , Jiadi Zhu , Tiejun Tong , Junhui Wang , Bingqing Lin , Jun Zhang

Immune checkpoint inhibitors (ICIs) have transformed cancer therapy; yet substantial proportion of patients exhibit intrinsic or acquired resistance, making accurate pre-treatment response prediction a critical unmet need.…

Single-Cell RNA sequencing (scRNA-seq) measurements have facilitated genome-scale transcriptomic profiling of individual cells, with the hope of deconvolving cellular dynamic changes in corresponding cell sub-populations to better…

Genomics · Quantitative Biology 2021-04-06 Seyednami Niyakan , Ehsan Hajiramezanali , Shahin Boluki , Siamak Zamani Dadaneh , Xiaoning Qian

Molecular phenotyping by gene expression profiling is common in contemporary cancer research and in molecular diagnostics. However, molecular profiling remains costly and resource intense to implement, and is just starting to be introduced…

Computer Vision and Pattern Recognition · Computer Science 2023-09-04 Philippe Weitz , Yinxi Wang , Kimmo Kartasalo , Lars Egevad , Johan Lindberg , Henrik Grönberg , Martin Eklund , Mattias Rantalainen

Single-cell-resolution spatial transcriptomics profiles gene expression at cellular locations in native tissues, yet accurate cell-type annotation remains challenging: imaging-based platforms are constrained by targeted gene panels, whereas…

Cell Behavior · Quantitative Biology 2026-05-27 Yiyang Zhang , Bokai Zhao , Xiaoru Zhang , Zongchang Du , Xiaojuan Sun , Tianzi Jiang