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Brief Bioinform. 2018 Jun 21. doi: 10.1093/bib/bby047. [Epub ahead of print]

Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources.

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Department of Human Genetics, University of Chicago, 920 E. 58th Street, Chicago, IL, USA.
Computation Institute, University of Chicago, 5735 S. Ellis Avenue, Chicago, IL, USA.
Toyota Technological Institute at Chicago, 6045 S. Kenwood Avenue, Chicago, IL, USA.
Genentech, Inc. 1 DNA Way, Mail Stop: 35-6J, South San Francisco, CA, USA.
Department of Computer Science and Engineering, Amrita School of Engineering, Bengaluru, Amrita Vishwa Vidyapeetham, Kasavanahalli, Carmelaram P.O., Bengaluru, Karnataka, India.
Department of Computer Science, Illinois Institute of Technology, Chicago, IL, USA.
Gene Center, Ludwig-Maximilians-Universit√§t M√ľnchen, Munich, Germany.


In recent years, the emphasis of scientific inquiry has shifted from whole-genome analyses to an understanding of cellular responses specific to tissue, developmental stage or environmental conditions. One of the central mechanisms underlying the diversity and adaptability of the contextual responses is alternative splicing (AS). It enables a single gene to encode multiple isoforms with distinct biological functions. However, to date, the functions of the vast majority of differentially spliced protein isoforms are not known. Integration of genomic, proteomic, functional, phenotypic and contextual information is essential for supporting isoform-based modeling and analysis. Such integrative proteogenomics approaches promise to provide insights into the functions of the alternatively spliced protein isoforms and provide high-confidence hypotheses to be validated experimentally. This manuscript provides a survey of the public databases supporting isoform-based biology. It also presents an overview of the potential global impact of AS on the human canonical gene functions, molecular interactions and cellular pathways.


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