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Gene set analysis, a popular approach for analyzing high-throughput gene expression data, aims to identify sets of related genes that show significantly enriched or depleted expression patterns between different conditions. In the last…

Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call…

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

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 2017-10-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Mixed-precision quantization (MPQ) is crucial for deploying deep neural networks on resource-constrained devices, but finding the optimal bit-width for each layer represents a complex combinatorial optimization problem. Current…

Machine Learning · Computer Science 2026-03-24 Mehmet Emre Akbulut , Hazem Hesham Yousef Shalby , Fabrizio Pittorino , Manuel Roveri

RNA-Seq and gene expression microarrays provide comprehensive profiles of gene activity, but lack of reproducibility has hindered their application. A key challenge in the data analysis is the normalization of gene expression levels, which…

Populations and Evolution · Quantitative Biology 2017-03-10 Carlos P. Roca , Susana I. L. Gomes , Mónica J. B. Amorim , Janeck J. Scott-Fordsmand

Background: With the fast development of next generation sequencing technologies, increasing numbers of genomes are being de novo sequenced and assembled. However, most are in fragmental and incomplete draft status, and thus it is often…

Genomics · Quantitative Biology 2020-02-28 Binghang Liu , Yujian Shi , Jianying Yuan , Xuesong Hu , Hao Zhang , Nan Li , Zhenyu Li , Yanxiang Chen , Desheng Mu , Wei Fan

DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and understanding DNAme profiles offers considerable promise for…

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

For unsupervised data-dependent hashing, the two most important requirements are to preserve similarity in the low-dimensional feature space and to minimize the binary quantization loss. A well-established hashing approach is Iterative…

Computer Vision and Pattern Recognition · Computer Science 2019-11-14 Tuan Hoang , Thanh-Toan Do , Huu Le , Dang-Khoa Le-Tan , Ngai-Man Cheung

We present a new modelling approach for longitudinal count data that is motivated by the increasing availability of longitudinal RNA-sequencing experiments. The distribution of RNA-seq counts typically exhibits overdispersion,…

Methodology · Statistics 2020-08-27 Mirko Signorelli , Pietro Spitali , Roula Tsonaka

Many modern biological assays, including RNA sequencing, yield integer-valued counts that reflect the number of molecules detected. These measurements are often not at the desired resolution: while the unit of interest is typically a single…

Machine Learning · Computer Science 2026-03-06 Nic Fishman , Gokul Gowri , Tanush Kumar , Jiaqi Lu , Valentin de Bortoli , Jonathan S. Gootenberg , Omar Abudayyeh

Phenotypic heterogeneity is a most fascinating property of a population of cells, which shows the differences among individuals even with the same genetic background and extracellular environmental conditions. However, the lack of…

Quantitative Methods · Quantitative Biology 2020-10-08 Huibao Feng , Chong Zhang

Late diagnosis and high costs are key factors that negatively impact the care of cancer patients worldwide. Although the availability of biological markers for the diagnosis of cancer type is increasing, costs and reliability of tests…

Machine Learning · Computer Science 2019-08-20 Sterling Ramroach , Melford John , Ajay Joshi

By creating networks of biochemical pathways, communities of micro-organisms are able to modulate the properties of their environment and even the metabolic processes within their hosts. Next-generation high-throughput sequencing has led to…

Applications · Statistics 2023-03-28 Molly G. Hayes , Morgan G. I. Langille , Hong Gu

In recent years, advances in high throughput sequencing technology have led to a need for specialized methods for the analysis of digital gene expression data. While gene expression data measured on a microarray take on continuous values…

Applications · Statistics 2012-02-29 Daniela M. Witten

Single-cell RNA sequencing (scRNA-seq) technology has profiled hundreds of millions of human cells across organs, diseases, development and perturbations to date. However, the high-dimensional sparsity, batch effect noise, category…

Machine Learning · Computer Science 2025-03-07 Zhen Yu , Jianan Han , Yang Liu , Qingchao Chen

Single-cell RNA sequencing (scRNA-seq) enables dissecting cellular heterogeneity in tissues, resulting in numerous biological discoveries. Various computational methods have been devised to delineate cell types by clustering scRNA-seq data…

Quantitative Methods · Quantitative Biology 2023-09-18 Tram Huynh , Zixuan Cang

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

Gene-based testing is a commonly employed strategy in many genetic association studies. Gene-trait associations can be complex due to underlying population heterogeneity, gene-environment interactions, and various other reasons. Existing…

Methodology · Statistics 2020-12-15 Tianying Wang , Iuliana Ionita-Laza , Ying Wei