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    Genome Biol. 2009;10(6):R60. Epub 2009 Jun 2.

    Closing gaps in the human genome using sequencing by synthesis.

    Garber M, Zody MC, Arachchi HM, Berlin A, Gnerre S, Green LM, Lennon N, Nusbaum C.

    Genome Sequencing and Analysis Program, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA 02142, USA. mgarber@broad.mit.edu

    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.

    PMID: 19490611 [PubMed - indexed for MEDLINE]

    PMCID: PMC2718494

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