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Self-supervised pre-training methods have brought remarkable breakthroughs in the understanding of text, image, and speech. Recent developments in genomics has also adopted these pre-training methods for genome understanding. However, they…

Machine Learning · Computer Science 2022-04-15 Samuel Cahyawijaya , Tiezheng Yu , Zihan Liu , Tiffany T. W. Mak , Xiaopu Zhou , Nancy Y. Ip , Pascale Fung

Recent experimental advances in biology allow researchers to obtain gene expression profiles at single-cell resolution over hundreds, or even thousands of cells at once. These single-cell measurements provide snapshots of the states of the…

Computational Engineering, Finance, and Science · Computer Science 2018-01-18 Jasmin Fisher , Ali Sinan Köksal , Nir Piterman , Steven Woodhouse

Dimensionality reduction is crucial for analyzing large-scale single-cell RNA-seq data. Gaussian Process Latent Variable Models (GPLVMs) offer an interpretable dimensionality reduction method, but current scalable models lack effectiveness…

Machine Learning · Statistics 2024-05-08 Sarah Zhao , Aditya Ravuri , Vidhi Lalchand , Neil D. Lawrence

Single-cell RNA sequencing (scRNA-seq) provides high-dimensional profiles of cellular states, enabling data-driven modeling of cellular dynamics over time. In practice, time-resolved scRNA-seq is collected at only a few discrete time points…

Machine Learning · Computer Science 2026-05-22 Siyu Pu , Qingqing Long , Xiaohan Huang , Haotian Chen , Jiajia Wang , Meng Xiao , Xiao Luo , Hengshu Zhu , Yuanchun Zhou , Xuezhi Wang

Detection of rare variants by resequencing is important for the identification of individuals carrying disease variants. Rapid sequencing by new technologies enables low-cost resequencing of target regions, although it is still prohibitive…

Genomics · Quantitative Biology 2009-09-03 Noam Shental , Amnon Amir , Or Zuk

Ribonucleic acids (RNA) are unique in that they can store genetic information, replicate and perform catalysis. Importantly, RNA molecules are highly dynamic, and thus determining the ensemble of conformations that they populate is crucial…

High-throughput sequencing is now regularly used for studies of the transcriptome (RNA-seq), particularly for comparisons among experimental conditions. For the time being, a limited number of biological replicates are typically considered…

Applications · Statistics 2013-06-18 Andrea Rau , Guillemette Marot , Florence Jaffrézic

The application of machine learning to transcriptomics data has led to significant advances in cancer research. However, the high dimensionality and complexity of RNA sequencing (RNA-seq) data pose significant challenges in pan-cancer…

Genomics · Quantitative Biology 2024-08-15 Jong Hyun Kim , Jongseong Jang

Single-cell RNA sequencing (scRNA-seq) frameworks lack explainable approaches for identifying cell subpopulations harboring strong pairwise monotonic gene-module relationships between a gene of interest (GOI) and its co-expressed genes.…

Genomics · Quantitative Biology 2026-05-05 Kah Keng Wong

We build a simple model for feedback systems involving small RNA (sRNA) molecules based on the iron metabolism system in the bacterium E. coli, and compare it with the corresponding system in H. pylori which uses purely transcriptional…

Molecular Networks · Quantitative Biology 2009-11-13 Namiko Mitarai , Anna M. C. Andersson , Sandeep Krishna , Szabolcs Semsey , Kim Sneppen

Recent developments in synthetic biology, next-generation sequencing, and machine learning provide an unprecedented opportunity to rationally design new disease treatments based on measured responses to gene perturbations and drugs to…

Molecular Networks · Quantitative Biology 2024-03-12 Thomas P. Wytock , Adilson E. Motter

Large Genomic Foundation Models have recently achieved remarkable results and in-vivo translation capabilities. However these models quickly grow to over a few Billion of parameters and are expensive to run when compute is limited. To…

Machine Learning · Computer Science 2026-04-13 Rasched Haidari , Sam Martin , Maxime Allard

We present a sparse knowledge gradient (SpKG) algorithm for adaptively selecting the targeted regions within a large RNA molecule to identify which regions are most amenable to interactions with other molecules. Experimentally, such regions…

Optimization and Control · Mathematics 2015-08-10 Yan Li , Kristofer G. Reyes , Jorge Vazquez-Anderson , Yingfei Wang , Lydia M. Contreras , Warren B. Powell

Although Large language Model (LLM)-powered information extraction (IE) systems have shown impressive capabilities, current fine-tuning paradigms face two major limitations: high training costs and difficulties in aligning with LLM…

Computation and Language · Computer Science 2025-12-16 Yushen Fang , Jianjun Li , Mingqian Ding , Chang Liu , Xinchi Zou , Wenqi Yang

The ability to quickly and accurately identify microbial species in a sample, known as metagenomic profiling, is critical across various fields, from healthcare to environmental science. This paper introduces a novel method to profile…

Genomics · Quantitative Biology 2025-04-10 Riselda Kodra , Hadjer Benmeziane , Irem Boybat , William Andrew Simon

Although RNA-Seq data provide unprecedented isoform-level expression information, detection of alternative isoform regulation (AIR) remains difficult, particularly when working with an incomplete transcript annotation. We introduce…

Genomics · Quantitative Biology 2016-06-03 Stephen W. Hartley , James C. Mullikin

Single-cell transcriptomics, epigenomics, and other 'omics applied at single-cell resolution can significantly advance hypotheses and understanding of glial biology. Omics technologies are revealing a large and growing number of new glial…

Quantitative Methods · Quantitative Biology 2024-08-14 Katherine E. Prater , Kevin Z. Lin

Designing DNA and protein sequences with improved function has the potential to greatly accelerate synthetic biology. Machine learning models that accurately predict biological fitness from sequence are becoming a powerful tool for…

Machine Learning · Computer Science 2022-03-17 Johannes Linder , Georg Seelig

Zebrafish are an ideal system to study the effect(s) of chemical, genetic, and environmental perturbations on development due to their high fecundity and fast growth. Recently, single cell sequencing has emerged as a powerful tool to…

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

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