Scientific Publications

An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing.

Publication TypeJournal Article
AuthorsMargulies, EH, Vinson JP, NISC Comparative Sequencing Program, Miller W., Jaffe DB, Lindblad-Toh K., Chang JL, Green ED, Lander E. S., Mullikin JC, and Clamp M.
AbstractWith the recent completion of a high-quality sequence of the human genome, the challenge is now to understand the functional elements that it encodes. Comparative genomic analysis offers a powerful approach for finding such elements by identifying sequences that have been highly conserved during evolution. Here, we propose an initial strategy for detecting such regions by generating low-redundancy sequence from a collection of 16 eutherian mammals, beyond the 7 for which genome sequence data are already available. We show that such sequence can be accurately aligned to the human genome and used to identify most of the highly conserved regions. Although not a long-term substitute for generating high-quality genomic sequences from many mammalian species, this strategy represents a practical initial approach for rapidly annotating the most evolutionarily conserved sequences in the human genome, providing a key resource for the systematic study of human genome function.
Year of Publication2005
JournalProceedings of the National Academy of Sciences of the United States of America
Date Published (YYYY/MM/DD)2005/03/29
ISSN Number0027-8424