Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered splicing might be a common mechanism by which mutations cause disease. However, most exons expressed in any cell are highly-included in mature mRNAs. Here, by performing deep mutagenesis of highly-included exons and by analysing the association between genome sequence variation and exon inclusion across the transcriptome, we report that mutations only very rarely alter the inclusion of highly-included exons. This is true for both exonic and intronic mutations as well as for perturbations in trans. Therefore, mutations th...
Auxiliary splicing signals play a major role in the regulation of constitutive and alternative pre-m...
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we ...
Background: Alternatively spliced exons play an important role in the diversification of gene functi...
Alternative pre-mRNA splicing is a regulated step in eukaryotic gene expression in which introns are...
Alternative pre-mRNA splicing is a regulated step in eukaryotic gene expression in which introns are...
Alternative splicing diversifies mRNA transcripts in human cells. This sequence-driven process can b...
Alternative splicing diversifies mRNA transcripts in human cells. This sequence-driven process can b...
Mutations that lead to splicing defects can have severe consequences on gene function and cause dise...
With the availability of a large amount of genomic data it is expected that the influence of single ...
With the availability of a large amount of genomic data it is expected that the influence of single ...
Previous studies showed that the magnitude of selection pressure in constitutive exons is higher tha...
While recent studies have identified higher than anticipated heterogeneity of mutation rate across g...
The properties of genotype-phenotype landscapes are crucial for understanding evolution but are not ...
With the availability of a large amount of genomic data it is expected that the influence of single ...
<div><p>The identification of a causal mutation is essential for molecular diagnosis and clinical ma...
Auxiliary splicing signals play a major role in the regulation of constitutive and alternative pre-m...
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we ...
Background: Alternatively spliced exons play an important role in the diversification of gene functi...
Alternative pre-mRNA splicing is a regulated step in eukaryotic gene expression in which introns are...
Alternative pre-mRNA splicing is a regulated step in eukaryotic gene expression in which introns are...
Alternative splicing diversifies mRNA transcripts in human cells. This sequence-driven process can b...
Alternative splicing diversifies mRNA transcripts in human cells. This sequence-driven process can b...
Mutations that lead to splicing defects can have severe consequences on gene function and cause dise...
With the availability of a large amount of genomic data it is expected that the influence of single ...
With the availability of a large amount of genomic data it is expected that the influence of single ...
Previous studies showed that the magnitude of selection pressure in constitutive exons is higher tha...
While recent studies have identified higher than anticipated heterogeneity of mutation rate across g...
The properties of genotype-phenotype landscapes are crucial for understanding evolution but are not ...
With the availability of a large amount of genomic data it is expected that the influence of single ...
<div><p>The identification of a causal mutation is essential for molecular diagnosis and clinical ma...
Auxiliary splicing signals play a major role in the regulation of constitutive and alternative pre-m...
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we ...
Background: Alternatively spliced exons play an important role in the diversification of gene functi...