Over the past decade, it has been shown that alternative splicing (AS) is a major mechanism
for the enhancement of transcriptome and proteome diversity, particularly in mammals …

Evolution of exon-intron structure of eukaryotic genes has been a matter of long-standing,
intensive debate. The introns-early concept, later rebranded 'introns first'held that protein …

The lack of tools to identify causative variants from sequencing data greatly limits the
promise of precision medicine. Previous studies suggest that one-third of disease …

Phylogenomics refers to the inference of historical relationships among species using
genome-scale sequence data and to the use of phylogenetic analysis to infer protein …

We describe a comprehensive quantitative measure of the splicing impact of a complete set
of RNA 6-mer sequences by deep sequencing successfully spliced transcripts. All 4096 6 …

Most human genes produce multiple splicing isoforms with distinct functions. To
systematically understand splicing regulation, we conducted an unbiased screen and …

The “nearly neutral” theory of molecular evolution proposes that many features of genomes
arise from the interaction of three weak evolutionary forces: mutation, genetic drift, and …

Models for genetic regulation and cell fate specification characteristically assume that gene
regulatory networks (GRNs) are essentially deterministic and exhibit multiple stable states …

If sequencing was possible only for genomes, and not for RNAs or proteins, then functional
protein-coding exons would be recognizable by their unusual patterns of nucleotide …

Accurate pre-mRNA splicing requires primary splicing signals, including the splice sites, a
polypyrimidine tract, and a branch site, other splicing-regulatory elements (SREs). The SREs …