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Chunk #35 — DISCUSSION

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APPRIS: annotation of principal and alternative splice isoforms.
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APPRIS principal isoforms have a wide range of uses and are applicable in all fields of research. Determining a principal isoform is important for research groups studying individual genes, since it is vitally important for designing experimental work. Researchers need to be able to work with the isoform that is most likely to have major functional activity, and this is not always clear for all genes. The designation of a single variant as the principal isoform is a critical first step for any genome analysis, for example, studies of cancer mutations (50) would be able to use APPRIS data to determine whether the mutations are principal or alternative exons, and proteomics studies could use APPRIS data to decide whether a peptide would be generated from on alternative or principal exon. Since automatic prediction methods rely on the quality of input data, starting from the principal isoform should allow groups to perform more reliable studies. Finally, the selection of a principal isoform also serves as a starting point for investigations into the functional potential of alternative isoforms. These are just a few examples; the potential for the use of the APPRIS data in research is huge.