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 epitranscriptome beyond m6A

D Wiener, S Schwartz - Nature Reviews Genetics, 2021 - nature.com
Following its transcription, RNA can be modified by> 170 chemically distinct types of
modifications—the epitranscriptome. In recent years, there have been substantial efforts to …

Ageing-associated changes in transcriptional elongation influence longevity

C Debès, A Papadakis, S Grönke, Ö Karalay, LS Tain… - Nature, 2023 - nature.com
Physiological homeostasis becomes compromised during ageing, as a result of impairment
of cellular processes, including transcription and RNA splicing,,–. However, the molecular …

[HTML][HTML] Comprehensive analysis of alternative splicing across tumors from 8,705 patients

A Kahles, KV Lehmann, NC Toussaint, M Hüser… - Cancer cell, 2018 - cell.com
Our comprehensive analysis of alternative splicing across 32 The Cancer Genome Atlas
cancer types from 8,705 patients detects alternative splicing events and tumor variants by …

[HTML][HTML] Robust hyperparameter estimation protects against hypervariable genes and improves power to detect differential expression

B Phipson, S Lee, IJ Majewski… - The annals of applied …, 2016 - ncbi.nlm.nih.gov
One of the most common analysis tasks in genomic research is to identify genes that are
differentially expressed (DE) between experimental conditions. Empirical Bayes (EB) …

The human transcriptome across tissues and individuals

M Melé, PG Ferreira, F Reverter, DS DeLuca… - Science, 2015 - science.org
Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

CHESS: a new human gene catalog curated from thousands of large-scale RNA sequencing experiments reveals extensive transcriptional noise

M Pertea, A Shumate, G Pertea, A Varabyou… - Genome biology, 2018 - Springer
We assembled the sequences from deep RNA sequencing experiments by the Genotype-
Tissue Expression (GTEx) project, to create a new catalog of human genes and transcripts …

The role of regulatory variation in complex traits and disease

FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

Deep intronic mutations and human disease

R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

Alternative splicing during mammalian organ development

PV Mazin, P Khaitovich, M Cardoso-Moreira… - Nature …, 2021 - nature.com
Alternative splicing (AS) is pervasive in mammalian genomes, yet cross-species
comparisons have been largely restricted to adult tissues and the functionality of most AS …