Closing gaps in the human genome using sequencing by synthesis
1 Genome Sequencing and Analysis Program, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA 02142, USA
2 Department of Medical Biochemistry and Microbiology, Uppsala University, SE-751 24 Uppsala, Sweden
Genome Biology 2009, 10:R60 doi:10.1186/gb-2009-10-6-r60Published: 2 June 2009
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.