A genomic view of alternative splicing

Nat Genet. 2002 Jan;30(1):13-9. doi: 10.1038/ng0102-13.


Recent genome-wide analyses of alternative splicing indicate that 40-60% of human genes have alternative splice forms, suggesting that alternative splicing is one of the most significant components of the functional complexity of the human genome. Here we review these recent results from bioinformatics studies, assess their reliability and consider the impact of alternative splicing on biological functions. Although the 'big picture' of alternative splicing that is emerging from genomics is exciting, there are many challenges. High-throughput experimental verification of alternative splice forms, functional characterization, and regulation of alternative splicing are key directions for research. We recommend a community-based effort to discover and characterize alternative splice forms comprehensively throughout the human genome.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alternative Splicing*
  • Animals
  • Computational Biology
  • DNA / genetics
  • Expressed Sequence Tags
  • False Positive Reactions
  • Forecasting
  • Genetic Variation
  • Genomics*
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Protein Isoforms / genetics
  • RNA, Messenger / genetics


  • Protein Isoforms
  • RNA, Messenger
  • DNA