Method

Closing gaps in the human genome using sequencing by synthesis

Manuel Garber¹ , Michael C Zody^1,2 , Harindra M Arachchi¹ , Aaron Berlin¹ , Sante Gnerre¹ , Lisa M Green¹ , Niall Lennon¹ and Chad Nusbaum¹

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

author email corresponding author email

Genome Biology 2009, 10:R60doi:10.1186/gb-2009-10-6-r60

Published:	2 June 2009

Subject areas: Genetics, Genome studies, Methods, Molecular biology

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.