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Closing gaps in the human genome using sequencing by synthesis
Authors:Manuel Garber  Michael C Zody  Harindra M Arachchi  Aaron Berlin  Sante Gnerre  Lisa M Green  Niall Lennon  Chad Nusbaum
Institution:(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
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.
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