Discovering the Relationship between Single Nucleotide Polymorphisms and Alternative Splicing Events

Recent genome-wide analyses show that 40-70% of human genes have alternative splicing forms, meaning that alternative splicing has played a significant role in the complicated functions of the human genome. Therefore the study of alternative splicing has long been a valuable subfield of molecular biology, since the results of such study often serve as useful resources that can take studies of molecular biology to a more advanced level. In our study, we combined multiple data sources including dbSNP, human EST and an alternative splicing database to seek out the relationship between SNP and alternative splicing, and propose an automatic method for large-scale analysis of SNP-alternative splicing pairs. We discovered the relationship between one SNP and one alternative splicing event, and revealed 2,645 novel significant SNPs (P < 0.05) and 1,290 highly significant SNPs (P < 0.001) are correlated to the specific alternative splicing events.