Alternative splicing as a source of phenotypic diversity
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 …
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 …
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 …
of cellular processes, including transcription and RNA splicing,,–. However, the molecular …
[HTML][HTML] Comprehensive analysis of alternative splicing across tumors from 8,705 patients
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 …
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
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) …
differentially expressed (DE) between experimental conditions. Empirical Bayes (EB) …
The human transcriptome across tissues and individuals
Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …
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
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 …
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 …
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 …
substantial proportion of patients, sequence information restricted to exons and exon–intron …
Alternative splicing during mammalian organ development
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 …
comparisons have been largely restricted to adult tissues and the functionality of most AS …