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Sequencing costs currently prohibit the application of single-cell mRNA-seq to many biological and clinical analyses. Targeted single-cell mRNA-sequencing reduces sequencing costs by profiling reduced gene sets that capture biological…

Genomics · Quantitative Biology 2022-02-15 Xiaoqiao Chen , Sisi Chen , Matt Thomson

The swift advancement of single-cell RNA sequencing (scRNA-seq) technologies enables the investigation of cellular-level tissue heterogeneity. Cell annotation significantly contributes to the extensive downstream analysis of scRNA-seq data.…

Machine Learning · Computer Science 2024-11-28 Huifa Li , Jie Fu , Xinpeng Ling , Zhiyu Sun , Kuncan Wang , Zhili Chen

The genetic etiologies of common diseases are highly complex and heterogeneous. Classic statistical methods, such as linear regression, have successfully identified numerous genetic variants associated with complex diseases. Nonetheless,…

Applications · Statistics 2020-10-28 Jinghang Lin , Xiaoran Tong , Chenxi Li , Qing Lu

High-throughput RNA-sequencing (RNA-seq) technologies are powerful tools for understanding cellular state. Often it is of interest to quantify and summarize changes in cell state that occur between experimental or biological conditions.…

Methodology · Statistics 2021-02-16 Andrew Jones , F. William Townes , Didong Li , Barbara E. Engelhardt

Cell clustering is crucial for uncovering cellular heterogeneity in single-cell RNA sequencing (scRNA-seq) data by identifying cell types and marker genes. Despite its importance, benchmarks for scRNA-seq clustering methods remain…

Genomics · Quantitative Biology 2025-12-03 Ping Xu , Zaitian Wang , Zhirui Wang , Pengjiang Li , Jiajia Wang , Ran Zhang , Pengfei Wang , Yuanchun Zhou

Stochastic Differential Equations (SDEs) serve as a powerful modeling tool in various scientific domains, including systems science, engineering, and ecological science. While the specific form of SDEs is typically known for a given…

Methodology · Statistics 2024-02-27 Xin Cai , Jingyu Yang , Zhibao Li , Hongqiao Wang , Miao Huang

Discrete probability laws underpin statistical modeling, yet the catalog of interpretable distributions has expanded only gradually through centuries of case-by-case mathematical derivations. We introduce symbolic density estimation (SDE),…

Machine Learning · Computer Science 2026-05-25 Ziwen Liu , Meng Li

A wide range of studies in population genetics have employed the sample frequency spectrum (SFS), a summary statistic which describes the distribution of mutant alleles at a polymorphic site in a sample of DNA sequences. In particular,…

Probability · Mathematics 2016-03-03 John A. Kamm , Jonathan Terhorst , Yun S. Song

Single-cell RNA sequencing (scRNA-seq) enables researchers to analyze gene expression at single-cell level. One important task in scRNA-seq data analysis is unsupervised clustering, which helps identify distinct cell types, laying down the…

Genomics · Quantitative Biology 2023-12-29 Weikang Jiang , Jinxian Wang , Jihong Guan , Shuigeng Zhou

Single cell combinatorial indexing RNA sequencing (sci-RNA-seq) is a powerful method for recovering gene expression data from an exponentially scalable number of individual cells or nuclei. However, sci-RNA-seq is a complex protocol that…

Gene expression profiling technologies have been used in various applications such as cancer biology. The development of gene expression profiling has expanded the scope of target discovery in transcriptomic studies, and each technology…

Genomics · Quantitative Biology 2023-01-10 Hyeongseon Jeon , Juan Xie , Yeseul Jeon , Kyeong Joo Jung , Arkobrato Gupta , Won Chang , Dongjun Chung

The Genotype-Tissue Expression (GTEx) project collects samples from multiple human tissues to study the relationship between genetic variation or single nucleotide polymorphisms (SNPs) and gene expression in each tissue. However, most…

Methodology · Statistics 2022-11-28 Fei Xue , Hongzhe Li

The ability to measure the transcriptomes of single cells has only been feasible for a few years, and is becoming an extremely popular assay. While many types of analysis and questions can be answered using single cell RNA-sequencing, a…

Genomics · Quantitative Biology 2017-08-09 Valentine Svensson , Roser Vento-Tormo , Sarah A Teichmann

As a powerful tool for characterizing cellular subpopulations and cellular heterogeneity, single cell RNA sequencing (scRNA-seq) technology offers advantages of high throughput and multidimensional analysis. However, the process of data…

Machine Learning · Computer Science 2024-11-19 Zhuorui Cui , Shengze Dong , Ding Liu

Estimating and testing for differences in molecular phenotypes (e.g. gene expression, chromatin accessibility, transcription factor binding) across conditions is an important part of understanding the molecular basis of gene regulation.…

Gene expression microarray technologies provide the simultaneous measurements of a large number of genes. Typical analyses of such data focus on the individual genes, but recent work has demonstrated that evaluating changes in expression…

Applications · Statistics 2010-06-29 Babak Shahbaba , Robert Tibshirani , Catherine M. Shachaf , Sylvia K. Plevritis

Accurately counting cells in microscopic images is important for medical diagnoses and biological studies, but manual cell counting is very tedious, time-consuming, and prone to subjective errors, and automatic counting can be less accurate…

Computer Vision and Pattern Recognition · Computer Science 2019-03-25 Shenghua He , Kyaw Thu Minn , Lilianna Solnica-Krezel , Mark Anastasio , Hua Li

Use of next-generation sequencing technologies to transcriptomics (RNA-seq) for gene expression profiling has found widespread application in studying different biological conditions including cancers. However, RNA-seq experiments are still…

Methodology · Statistics 2022-08-08 Birbal Prasad , Xinzhong Li

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

In genomics studies, the investigation of the gene relationship often brings important biological insights. Currently, the large heterogeneous datasets impose new challenges for statisticians because gene relationships are often local. They…

Methodology · Statistics 2022-03-07 Jinjin Tian , Jing Lei , Kathryn Roeder
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