Scientific Publications

Closing gaps in the human genome using sequencing by synthesis.

Publication TypeJournal Article
AuthorsGarber, M., Zody MC, Arachchi HM, Berlin A., Gnerre S., Green LM, Lennon N., and Nusbaum C.
AbstractThe 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.
Year of Publication2009
JournalGenome biology
Date Published (YYYY/MM/DD)2009/01/01
ISSN Number1465-6906