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Single-cell RNA-seq data are challenging because of the sparseness of the read counts, the tiny expression of many relevant genes, and the variability in the efficiency of RNA extraction for different cells. We consider a simple…

Methodology · Statistics 2020-02-10 Silvia Giulia Galfre' , Francesco Morandin

Chromatin immunoprecipitation with high-throughput sequencing (ChIP-seq) provides insights into both the genomic location occupied by the protein of interest and the difference in DNA occupancy between experimental states. Given that…

Genomics · Quantitative Biology 2025-06-13 Sara Colando , Danae Schulz , Johanna Hardin

RNA-Seq technology allows for studying the transcriptional state of the cell at an unprecedented level of detail. Beyond quantification of whole-gene expression, it is now possible to disentangle the abundance of individual alternatively…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

Background: Single-cell RNA sequencing (scRNA-seq) enables gene expression profiling at cellular resolution but is inherently affected by sparsity caused by dropout events, where expressed genes are recorded as zeros due to technical…

Genomics · Quantitative Biology 2026-04-15 Yuichiro Iwashita , Ahtisham Fazeel Abbasi , Koichi Kise , Andreas Dengel , Muhammad Nabeel Asim

Statistical practice does not automatically follow methodological innovation. Regularization methods, widely advocated to reduce overfitting and stabilize inference, are readily available in modern software, but are not consistently used by…

Rapidly growing public gene expression databases contain a wealth of data for building an unprecedentedly detailed picture of human biology and disease. This data comes from many diverse measurement platforms that make integrating it all…

Genomics · Quantitative Biology 2014-10-16 Karolis Uziela , Antti Honkela

In recent years, the advances in single-cell RNA-seq techniques have enabled us to perform large-scale transcriptomic profiling at single-cell resolution in a high-throughput manner. Unsupervised learning such as data clustering has become…

Genomics · Quantitative Biology 2020-01-07 Shixiong Zhang , Xiangtao Li , Qiuzhen Lin , Ka-Chun Wong

Motivation: The mapping of RNA-seq reads to their transcripts of origin is a fundamental task in transcript expression estimation and differential expression scoring. Where ambiguities in mapping exist due to transcripts sharing sequence,…

Genomics · Quantitative Biology 2015-01-28 James Hensman , Peter Glaus , Antti Honkela , Magnus Rattray

RNA-Seq data characteristically exhibits large variances, which need to be appropriately accounted for in the model. We first explore the effects of this variability on the maximum likelihood estimator (MLE) of the overdispersion parameter…

Methodology · Statistics 2015-12-03 Luis Leon-Novelo , Claudio Fuentes , Sarah Emerson

The accurate quantification of gene expression levels is crucial for transcriptome study. Microarray platforms are commonly used for simultaneously interrogating thousands of genes in the past decade, and recently RNA-Seq has emerged as a…

Applications · Statistics 2014-08-01 Zhaonan Sun , Thomas Kuczek , Yu Zhu

Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) has enabled the accurate estimation of gene expression at individual isoform level. However, systematic biases introduced during the sequencing and mapping processes as well as…

Methodology · Statistics 2013-10-02 Hui Jiang , Julia Salzman

The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be…

Genomics · Quantitative Biology 2015-08-03 Gael P. Alamancos , Eneritz Agirre , Eduardo Eyras

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…

Applications · Statistics 2015-01-29 Kai Dong , Hongyu Zhao , Xiang Wan , Tiejun Tong

Most deep anomaly detection models are based on learning normality from datasets due to the difficulty of defining abnormality by its diverse and inconsistent nature. Therefore, it has been a common practice to learn normality under the…

Machine Learning · Computer Science 2023-09-19 Minkyung Kim , Jongmin Yu , Junsik Kim , Tae-Hyun Oh , Jun Kyun Choi

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

One pivotal feature of transcriptomics data is the unwanted variations caused by disparate experimental handling, known as handling effects. Various data normalization methods were developed to alleviate the adverse impact of handling…

Genomics · Quantitative Biology 2021-02-09 Ai Ni , Li-Xuan Qin

Regularization is crucial to the success of many practical deep learning models, in particular in a more often than not scenario where there are only a few to a moderate number of accessible training samples. In addition to weight decay,…

Machine Learning · Computer Science 2018-08-07 Che-Wei Huang , Shrikanth S. Narayanan

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

Isoform quantification is an important goal of RNA-seq experiments, yet it remains prob- lematic for genes with low expression or several isoforms. These difficulties may in principle be ameliorated by exploiting correlated experimental…

Genomics · Quantitative Biology 2016-02-23 Yuanhua Huang , Guido Sanguinetti