Bioinformatics of alternative splicing and its regulation

Liliana Florea
2006 Briefings in Bioinformatics  
The sequencing of the human genome and ensuing wave of data generation have brought new light upon the extent and importance of alternative splicing as an RNA regulatory mechanism. Alternative splicing could potentially explain the complexity of protein repertoire during evolution, and defects in the splicing mechanism are responsible for diseases as complex as cancer. Among the challenges that rise in light of these discoveries are cataloguing splice variation in the human and other eukaryotic
more » ... genomes, and identifying and characterizing the splicing regulatory elements that control their expression. Bioinformatics efforts tackling these two questions are just at the beginning. This article is a survey of these methods. Alternative splicing has important implications for biology and medicine. Identifying all splice variations and the signals that regulate splicing are core problems in genomics and bioinformatics. Large EST data sets and sequence data from multiple genomes are fueling efforts to develop new computational methods to address these problems.
doi:10.1093/bib/bbk005 pmid:16761365 fatcat:m3y6dxczujblnasvypznhww72i