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Mediation analysis in causal inference typically concentrates on one binary exposure, using deterministic interventions to split the average treatment effect into direct and indirect effects through a single mediator. Yet, real-world…

统计方法学 · 统计学 2023-07-07 David B. McCoy , Alan E. Hubbard , Mark van der Laan , Alejandro Schuler

RNA-sequencing (RNA-Seq) has become a powerful technology to characterize gene expression profiles because it is more accurate and comprehensive than microarrays. Although statistical methods that have been developed for microarray data can…

应用统计 · 统计学 2015-01-29 Kai Dong , Hongyu Zhao , Xiang Wan , Tiejun Tong

Recent studies of cancer somatic mutation profiles seek to identify mutations for targeted therapy in personalized medicine. Analysis of profiles, however, is not trivial, as each profile is heterogeneous and there are multiple confounding…

机器学习 · 统计学 2020-05-25 Rahul Mehta , Muge Karaman

Synthetic data, an appealing alternative to extensive expert-annotated data for medical image segmentation, consistently fails to improve segmentation performance despite its visual realism. The reason being that synthetic and real medical…

计算机视觉与模式识别 · 计算机科学 2026-02-04 OFM Riaz Rahman Aranya , Kevin Desai

Single-cell data analysis has the potential to revolutionize personalized medicine by characterizing disease-associated molecular changes at the single-cell level. Advanced single-cell multimodal assays can now simultaneously measure…

定量方法 · 定量生物学 2026-01-05 Ali Anaissi , Seid Miad Zandavi , Weidong Huang , Junaid Akram , Basem Suleiman , Ali Braytee , Jie Hua

An important challenge in cancer systems biology is to uncover the complex network of interactions between genes (tumor suppressor genes and oncogenes) implicated in cancer. Next generation sequencing provides unparalleled ability to probe…

基因组学 · 定量生物学 2012-12-10 Ying Cai , Bernard Fendler , Gurinder S. Atwal

Single-cell RNA sequencing technologies have revolutionized our understanding of cellular heterogeneity, yet computational methods often struggle to balance performance with biological interpretability. Embedded topic models have been…

机器学习 · 计算机科学 2025-12-08 Hegang Chen , Yuyin Lu , Yifan Zhao , Zhiming Dai , Fu Lee Wang , Qing Li , Yanghui Rao , Yue Li

Motivation: Single cell transcriptome sequencing (scRNA-Seq) has become a revolutionary tool to study cellular and molecular processes at single cell resolution. Among existing technologies, the recently developed droplet-based platform…

机器学习 · 统计学 2017-04-10 Zhe Sun , Ting Wang , Ke Deng , Xiao-Feng Wang , Robert Lafyatis , Ying Ding , Ming Hu , Wei Chen

Self-supervised learning (SSL) has proven to be a powerful approach for extracting biologically meaningful representations from single-cell data. To advance our understanding of SSL methods applied to single-cell data, we present…

Latent variable models such as the Variational Auto-Encoder (VAE) have become a go-to tool for analyzing biological data, especially in the field of single-cell genomics. One remaining challenge is the interpretability of latent variables…

基因组学 · 定量生物学 2023-02-20 Romain Lopez , Nataša Tagasovska , Stephen Ra , Kyunghyn Cho , Jonathan K. Pritchard , Aviv Regev

Gene regulatory networks are powerful tools for modeling interactions among genes to regulate their expression for homeostasis and differentiation. Single-cell sequencing offers a unique opportunity to build these networks with…

分子网络 · 定量生物学 2026-01-06 Yasin Uzun

The integration of single-cell proteomic data is often hindered by the fragmented nature of targeted antibody panels. To address this limitation, we introduce scpFormer, a transformer-based foundation model designed for single-cell…

定量方法 · 定量生物学 2026-04-23 Qifeng Zhou , Lei Yu , Yuzhi Guo , Yuwei Miao , Hehuan Ma , Wenliang Zhong , Lin Xu , Junzhou Huang

Single-cell RNA sequencing (scRNA-seq) and spatially-resolved imaging/sequencing technologies have revolutionized biomedical research. On one hand, scRNA-seq provides information about a large portion of the transcriptome for individual…

计算工程、金融与科学 · 计算机科学 2026-03-24 Arezou Rahimi , Luis A. Vale-Silva , Maria Faelth Savitski , Jovan Tanevski , Julio Saez-Rodriguez

Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised…

基因组学 · 定量生物学 2026-04-27 Shanshan Ren , Thomas E. Bartlett , Lina Gerontogianni , Swati Chandna

Estimating slide- and patch-level gene expression profiles from pathology images enables rapid and low-cost molecular analysis with broad clinical impact. Despite strong results, existing approaches treat gene expression as a mere slide- or…

计算机视觉与模式识别 · 计算机科学 2026-03-20 Kazuya Nishimura , Ryoma Bise , Shinnosuke Matsuo , Haruka Hirose , Yasuhiro Kojima

Recent breakthroughs in single-cell technology have ushered in unparalleled opportunities to decode the molecular intricacy of intricate biological systems, especially those linked to diseases unique to humans. However, these progressions…

基因组学 · 定量生物学 2025-08-26 Huan Zhao , Yiming Liu , Jina Yao , Ling Xiong , Zexin Zhou , Zixing Zhang

Understanding cell identity and function through single-cell level sequencing data remains a key challenge in computational biology. We present a novel framework that leverages gene-specific textual annotations from the NCBI Gene database…

基因组学 · 定量生物学 2025-05-14 Douglas Jiang , Zilin Dai , Luxuan Zhang , Qiyi Yu , Haoqi Sun , Feng Tian

Deep learning, particularly with the advancement of Large Language Models, has transformed biomolecular modeling, with protein language models such as ESM inspiring emerging RNA language models such as RiNALMo. Recent work has begun…

生物大分子 · 定量生物学 2026-05-18 Taehan Kim , Sangdae Nam

RNA-Seq technology offers new high-throughput ways for transcript identification and quantification based on short reads, and has recently attracted great interest. The problem is usually modeled by a weighted splicing graph whose nodes…

定量方法 · 定量生物学 2013-08-02 Alexandru I. Tomescu , Anna Kuosmanen , Romeo Rizzi , Veli Mäkinen

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…