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Recently-developed genotype imputation methods are a powerful tool for detecting untyped genetic variants that affect disease susceptibility in genetic association studies. However, existing imputation methods require individual-level…

Applications · Statistics 2010-11-15 Xiaoquan Wen , Matthew Stephens

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…

Machine Learning · Computer Science 2025-12-08 Hegang Chen , Yuyin Lu , Yifan Zhao , Zhiming Dai , Fu Lee Wang , Qing Li , Yanghui Rao , Yue Li

Dealing with missing data in data analysis is inevitable. Although powerful imputation methods that address this problem exist, there is still much room for improvement. In this study, we examined single imputation based on deep…

Machine Learning · Computer Science 2020-04-07 Najmeh Abiri , Björn Linse , Patrik Edén , Mattias Ohlsson

RNA-seq has become a de facto standard for measuring gene expression. Traditionally, RNA-seq experiments are mathematically averaged -- they sequence the mRNA of individuals from different treatment groups, hoping to correlate phenotype…

Quantitative Methods · Quantitative Biology 2013-09-05 Surojit Biswas , Yash N. Agrawal , Tatiana S. Mucyn , Jeffery L. Dangl , Corbin D. Jones

We perform differential expression analysis of high-throughput sequencing count data under a Bayesian nonparametric framework, removing sophisticated ad-hoc pre-processing steps commonly required in existing algorithms. We propose to use…

Applications · Statistics 2017-05-04 Siamak Zamani Dadaneh , Xiaoning Qian , Mingyuan Zhou

Identification and quantification of condition-specific transcripts using RNA-Seq is vital in transcriptomics research. While initial efforts using mathematical or statistical modeling of read counts or per-base exonic signal have been…

Quantitative Methods · Quantitative Biology 2013-02-26 Tin Chi Nguyen , Nan Deng , Dongxiao Zhu

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

Background: The availability of high throughput methods for measurement of mRNA concentrations makes the reliability of conclusions drawn from the data and global quality control of samples and hybridization important issues. We address…

Quantitative Methods · Quantitative Biology 2007-05-23 S. Bilke , T. Breslin , M. Sigvardsson

Deep neural networks (DNNs) achieve state-of-the-art results in a variety of domains. Unfortunately, DNNs are notorious for their non-interpretability, and thus limit their applicability in hypothesis-driven domains such as biology and…

Machine Learning · Computer Science 2018-03-12 Chun-Hao Chang , Ladislav Rampasek , Anna Goldenberg

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

High-throughput RNA sequencing (RNA-seq) has emerged as a revolutionary and powerful technology for expression profiling. Most proposed methods for detecting differentially expressed (DE) genes from RNA-seq are based on statistics that…

Genomics · Quantitative Biology 2014-11-18 Li Zhang , Xuejun Liu , Songcan Chen

Until recently, transcriptomics was limited to bulk RNA sequencing, obscuring the underlying expression patterns of individual cells in favor of a global average. Thanks to technological advances, we can now profile gene expression across…

Quantitative Methods · Quantitative Biology 2018-11-30 Miriam Shiffman , William T. Stephenson , Geoffrey Schiebinger , Jonathan Huggins , Trevor Campbell , Aviv Regev , Tamara Broderick

Recent advancements in single-cell genomics necessitate precision in gene panel selection to interpret complex biological data effectively. Those methods aim to streamline the analysis of scRNA-seq data by focusing on the most informative…

Artificial Intelligence · Computer Science 2024-06-12 Weiliang Zhang , Zhen Meng , Dongjie Wang , Min Wu , Kunpeng Liu , Yuanchun Zhou , Meng Xiao

Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of cellular heterogeneity, enabling detailed molecular profiling at the individual cell level. However, integrating high-dimensional single-cell data into causal mediation…

Methodology · Statistics 2025-10-01 Seungjun Ahn , Li Chen , Maaike van Gerwen , Panos Roussos , Zhigang Li

The newly developed deep-sequencing technologies make it possible to acquire both quantitative and qualitative information regarding transcript biology. By measuring messenger RNA levels for all genes in a sample, RNA-seq provides an…

Genomics · Quantitative Biology 2014-12-05 Lerong Li , Momiao Xiong

Detecting differences in gene expression is an important part of single-cell RNA sequencing experiments, and many statistical methods have been developed for this aim. Most differential expression analyses focus on comparing expression…

Multiple imputation is a well-established general technique for analyzing data with missing values. A convenient way to implement multiple imputation is sequential regression multiple imputation (SRMI), also called chained equations…

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

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

Recent advances in molecular biology allow the quantification of the transcriptome and scoring transcripts as differentially or equally expressed between two biological conditions. Although these two tasks are closely linked, the available…

Methodology · Statistics 2017-02-08 Panagiotis Papastamoulis , Magnus Rattray