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 …

Comparative transcriptomics in human and mouse

A Breschi, TR Gingeras, R Guigó - Nature Reviews Genetics, 2017 - nature.com
Cross-species comparisons of genomes, transcriptomes and gene regulation are now
feasible at unprecedented resolution and throughput, enabling the comparison of human …

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 …

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 …

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 …

The evolution of gene expression in cis and trans

SA Signor, SV Nuzhdin - Trends in Genetics, 2018 - cell.com
There is abundant variation in gene expression between individuals, populations, and
species. The evolution of gene regulation and expression within and between species is …

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 …