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Related Experiment Videos

Gene annotation: prediction and testing.

Jennifer L Ashurst1, John E Collins

  • 1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom. jla1@sanger.ac.uk

Annual Review of Genomics and Human Genetics
|October 7, 2003
PubMed
Summary
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The human genome sequence is nearing completion, initiating the crucial task of cataloging all human genes and their functions. Manual curation is essential for detailed gene annotation, providing a valuable resource for researchers and future genomic studies.

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • The completion of the human genome sequence follows the 50th anniversary of DNA structure discovery.
  • Current gene prediction methods identify about 70% of estimated 30,000 human genes automatically.

Purpose of the Study:

  • To highlight the necessity of manual curation for comprehensive human gene annotation.
  • To emphasize the value of a high-quality, publicly available human gene set for the research community.

Main Methods:

  • Utilizing a combination of ab initio and similarity-based programs for initial gene prediction.
  • Employing manual intervention for high-quality annotation of alternative splicing, pseudogenes, and promoter regions.

Main Results:

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  • Automatic prediction covers approximately 70% of human genes.
  • Manual curation is required for detailed functional annotation and identification of novel features.

Conclusions:

  • Manual curation of the human genome is a long-term, ongoing project.
  • A curated human gene set will significantly benefit experimental research and comparative genomics.