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Abstract
Annual Review of Genomics and Human Genetics
Vol. 4: 69-88 (Volume publication date September 2003)
(doi:10.1146/annurev.genom.4.070802.110300)
GENE ANNOTATION: PREDICTION AND TESTING

Jennifer L. Ashurst and John E. Collins
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambridge CB10 1SA, United Kingdom; email:

Abstract Fifty years after the publication of DNA structure, the whole human genome sequence will be officially finished. This achievement marks the beginning of the task to catalogue every human gene and identify each of their function expression patterns. Currently, researchers estimate that there are about 30,000 human genes and approximately 70% of these can be automatically predicted using a combination of ab initio and similarity-based programs. However, to experimentally investigate every gene's function, the research community requires a high-quality annotation of alternative splicing, pseudogenes, and promoter regions that can only be provided by manual intervention. Manual curation of the human genome will be a long-term project as experimental data are continually produced to confirm or refine the predictions, and new features such as noncoding RNAs and enhancers have not been fully identified. Such a highly curated human gene-set made publicly available will be a great asset for the experimental community and for future comparative genome projects.

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Authors:
Jennifer L. Ashurst and
John E. Collins
Keywords:
human genome
manual annotation
ab initio prediction

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Annual Review of Genomics and Human Genetics. Volume 5, Page 267-293, Sep 2004
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