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Single-cell perturbation studies face dual heterogeneity bottlenecks: (i) semantic heterogeneity--identical biological concepts encoded under incompatible metadata schemas across datasets; and (ii) statistical heterogeneity--distribution…

Artificial Intelligence · Computer Science 2026-03-10 Wenxuan Huang , Mingyu Tsoi , Yanhao Huang , Xinjie Mao , Xue Xia , Hao Wu , Jiaqi Wei , Yuejin Yang , Lang Yu , Cheng Tan , Xiang Zhang , Zhangyang Gao , Siqi Sun

Causal mediation analysis is an important statistical tool to quantify effects transmitted by intermediate variables from a cause to an outcome. There is a gap in mediation analysis methods to handle mixture mediator data that are…

Methodology · Statistics 2025-07-22 Meilin Jiang , Seonjoo Lee , A. James O'Malley , Pengfei Li , Zhigang Li

Gene regulatory network (GRN) refers to the complex network formed by regulatory interactions between genes in living cells. In this paper, we consider inferring GRNs in single cells based on single cell RNA sequencing (scRNA-seq) data. In…

Molecular Networks · Quantitative Biology 2022-05-24 Junjie Tang , Changhu Wang , Feiyi Xiao , Ruibin Xi

Identifying cell clusters is a critical step for single-cell transcriptomics study. Despite the numerous clustering tools developed recently, the rapid growth of scRNA-seq volumes prompts for a more (computationally) efficient clustering…

Quantitative Methods · Quantitative Biology 2023-01-11 Nana Wei , Yating Nie , Lin Liu , Xiaoqi Zheng , Hua-Jun Wu4

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

Single-cell sequencing has a significant role to explore biological processes such as embryonic development, cancer evolution, and cell differentiation. These biological properties can be presented by a two-dimensional scatter plot.…

Genomics · Quantitative Biology 2021-10-19 Ziyi Liu , Minghui Liao , Fulin luo , Bo Du

Microbiome `omics approaches can reveal intriguing relationships between the human microbiome and certain disease states. Along with the identification of specific bacteria taxa associated with diseases, recent scientific advancements…

Applications · Statistics 2019-10-07 Shuang Jiang , Guanghua Xiao , Andrew Y. Koh , Qiwei Li , Xiaowei Zhan

Single-cell RNA-seq datasets are growing in size and complexity, enabling the study of cellular composition changes in various biological/clinical contexts. Scalable dimensionality reduction techniques are in need to disentangle biological…

This dissertation explores the application of machine learning in molecular biology, focusing on gene expression regulation and cellular behavior at the single-cell level. Using modern neural networks, the research addresses key challenges…

Quantitative Methods · Quantitative Biology 2024-10-01 Yongjian Yang

High-throughput RNA sequencing (RNA-seq) is now the standard method to determine differential gene expression. Identifying differentially expressed genes crucially depends on estimates of read count variability. These estimates are…

Single-cell sequencing technologies have significantly advanced molecular and cellular biology, offering unprecedented insights into cellular heterogeneity by allowing for the measurement of gene expression at an individual cell level.…

Methodology · Statistics 2024-03-26 Junsouk Choi , Hee Cheol Chung , Irina Gaynanova , Yang Ni

Single-cell RNA sequencing (scRNA-seq) has revolutionized our ability to study individual cellular distinctions and uncover unique cell characteristics. However, a significant technical challenge in scRNA-seq analysis is the occurrence of…

Genomics · Quantitative Biology 2024-07-25 Yoshitaka Inoue

Mediation analysis seeks to identify and quantify the paths by which an exposure affects an outcome. Intermediate variables which are effected by the exposure and which effect the outcome are known as mediators. There exists extensive work…

Methodology · Statistics 2020-11-13 James P. Long , Ehsan Irajizad , James D. Doecke , Kim-Anh Do , Min Jin Ha

Single-cell RNA sequencing (scRNA-seq) technologies have enabled the profiling of gene expression for a collection of cells across time during a dynamic biological process. Given that each time point provides only a static snapshot,…

Applications · Statistics 2025-06-16 Binghao Yan , Hongzhe Li

We present a novel method for automated identification of putative cell types from single-cell RNA-seq (scRNA-seq) data. By iteratively applying a machine learning approach to an initial clustering of gene expression profiles of a given set…

Quantitative Methods · Quantitative Biology 2020-04-22 Zhichao Miao , Pablo Moreno , Ni Huang , Irene Papatheodorou , Alvis Brazma , Sarah A Teichmann

Zero inflation is a common nuisance while monitoring disease progression over time. This article proposes a new observation driven model for zero inflated and over-dispersed count time series. The counts given the past history of the…

Statistics Theory · Mathematics 2021-05-14 Vurukonda Sathish , Siuli Mukhopadhyay , Rashmi Tiwari

Bulk gene expression experiments relied on aggregations of thousands of cells to measure the average expression in an organism. Advances in microfluidic and droplet sequencing now permit expression profiling in single cells. This study of…

Methodology · Statistics 2019-07-04 Andrew McDavid , Raphael Gottardo , Noah Simon , Mathias Drton

Induced pluripotent stem cells (iPSCs) provide a great model to study the process of reprogramming and differentiation of stem cells. Single-cell RNA sequencing (scRNA-seq) enables us to investigate the reprogramming process at single-cell…

Cell Behavior · Quantitative Biology 2020-12-30 Yusong Ye , Zhuoqin Yang , Jinzhi Lei

Single-cell transcriptomic data approximates the abundance of proteins at a high resolution, but its noisiness necessitates transformation by a pipeline of methods before analysis and inference. In the absence of robust validation of these…

Applications · Statistics 2026-04-13 Toby Kettlewell , Yiyi Cheng , Thomas D. Otto , Vincent Macaulay , Mayetri Gupta
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