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 recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing
proteomic diversity. AS can also impact gene expression levels without increasing protein …

Nonsense-mediated mRNA decay (NMD) is probably the best characterized eukaryotic RNA
degradation pathway. Through intricate steps, a set of NMD factors recognize and degrade …

The ability of living systems to adapt to changing conditions originates from their capacity to
change their molecular constitution. This is achieved by multiple mechanisms that modulate …

Defects in alternative splicing are frequently found in human tumors and result either from
mutations in splicing‐regulatory elements of specific cancer genes or from changes in the …

Sequence-specific RNA-binding proteins (RBPs) bind to pre-mRNA to control alternative
splicing, but it is not yet possible to read the'splicing code'that dictates splicing regulation on …

Mutations affecting spliceosomal proteins are the most common mutations in patients with
myelodysplastic syndromes (MDS), but their role in MDS pathogenesis has not been …

Alternative splicing (AS) can critically affect gene function and disease, yet mapping splicing
variations remains a challenge. Here, we propose a new approach to define and quantify …