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Closing gaps in the human genome using sequencing by synthesis (2009)

Abstract
The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome 15.

Publication details
Download http://hdl.handle.net/1721.1/49494
Publisher BioMed Central Ltd.
Contributors Broad Institute of MIT and Harvard, Gnerre, Sante, Berlin, Aaron, Gnerre, Sante, Green, Lisa M., Nusbaum, Chad, Lennon, Niall, Arachchi, Harindra M., Zody, Michael C., Garber, Manuel
Repository MIT Dspace (United States)
Type Article, http://purl.org/eprint/type/JournalArticle
Language English
Relation http://dx.doi.org/10.1186/gb-2009-10-6-r60
Genome Biology