Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

The role of sex in the genomics of human complex traits

EA Khramtsova, LK Davis, BE Stranger - Nature Reviews Genetics, 2019 - nature.com
Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

DJ McCarthy, Y Chen, GK Smyth - Nucleic acids research, 2012 - academic.oup.com
A flexible statistical framework is developed for the analysis of read counts from RNA-Seq
gene expression studies. It provides the ability to analyse complex experiments involving …

Count-based differential expression analysis of RNA sequencing data using R and Bioconductor

S Anders, DJ McCarthy, Y Chen, M Okoniewski… - Nature protocols, 2013 - nature.com
RNA sequencing (RNA-seq) has been rapidly adopted for the profiling of transcriptomes in
many areas of biology, including studies into gene regulation, development and disease. Of …

A comparison of methods for differential expression analysis of RNA-seq data

C Soneson, M Delorenzi - BMC bioinformatics, 2013 - Springer
Background Finding genes that are differentially expressed between conditions is an
integral part of understanding the molecular basis of phenotypic variation. In the past …

Detecting differential usage of exons from RNA-seq data

S Anders, A Reyes, W Huber - Nature Precedings, 2012 - nature.com
RNA-Seq is a powerful tool for the study of alternative splicing and other forms of alternative
isoform expression. Understanding the regulation of these processes requires sensitive and …

ANOVA-like differential expression (ALDEx) analysis for mixed population RNA-Seq

AD Fernandes, JM Macklaim, TG Linn, G Reid… - PloS one, 2013 - journals.plos.org
Experimental variance is a major challenge when dealing with high-throughput sequencing
data. This variance has several sources: sampling replication, technical replication …

The evolution of gene expression levels in mammalian organs

D Brawand, M Soumillon, A Necsulea, P Julien… - Nature, 2011 - nature.com
Abstract Changes in gene expression are thought to underlie many of the phenotypic
differences between species. However, large-scale analyses of gene expression evolution …

Computational methods for transcriptome annotation and quantification using RNA-seq

M Garber, MG Grabherr, M Guttman, C Trapnell - Nature methods, 2011 - nature.com
High-throughput RNA sequencing (RNA-seq) promises a comprehensive picture of the
transcriptome, allowing for the complete annotation and quantification of all genes and their …

TCC: an R package for comparing tag count data with robust normalization strategies

J Sun, T Nishiyama, K Shimizu, K Kadota - BMC bioinformatics, 2013 - Springer
Background Differential expression analysis based on “next-generation” sequencing
technologies is a fundamental means of studying RNA expression. We recently developed a …