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A genomic view of alternative splicing


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.

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Figure 1: Computational identification of alternative splicing.
Figure 2: Types of alternative splicing and possible effects on protein.
Figure 3: Experimental analysis of alternative splicing.
Figure 4: Cooperative roles for bioinformatics and experimentation in an alternative splicing annotation project (ASAP).


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We are grateful to D. Black, S. Galbraith and K. Ke for their critical comments and suggestions. C.L. was supported by a grant from the Department of Energy. B.M. was supported by National Science Foundation Integrative Graduate Education and Research Training award.

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Correspondence to Christopher Lee.

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Modrek, B., Lee, C. A genomic view of alternative splicing. Nat Genet 30, 13–19 (2002).

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