Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
In this issue...
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1997 Santa Fe Highlights
In the News
Genome Annotation: Informatics Advances Needed for Age of Functional Genomics
Sharply increasing rates of sequence-data production are placing greater and greater demands on information systems for new ways to view and better understand the meaning of the growing strings of As, Cs, Ts, and Gs piling up in GenBank and community databases (see article.). Enriching data with such information as gene features and locations, gene-control regions, related sequences, gene-expression patterns, gene and protein families, pathways, and phenotypes can help pave the way for a successful transition from the current structural genomics phase of DNA mapping and sequencing to functional genomics studies.
Genome Annotation Consortium
In outlining some current challenges in sequence annotation, Uberbacher noted that no community-wide annotation processes exist and that much of the annotation does not describe the methods and evidence used to create the data. Moreover, even if the sequence were annotated extensively when submitted to the database, long-term update and maintenance are challenges. New ESTs that may be important to understanding a genomic region of interest, for example, may have been entered into the dbEST database but are not represented in the original annotation. Annotation by end users is difficult because it requires multiple tools that use different formats and lack interoperability.
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Last modified: Wednesday, October 29, 2003
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