title: Closing gaps in the human genome using sequencing by synthesis.
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.
authors.affiliation: Genome Sequencing and Analysis Program, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA 02142, USA. mgarber@broad.mit.edu
authors.forename: Manuel
authors.initials: M
authors.lastname: Garber
authors.forename: Michael C
authors.initials: MC
authors.lastname: Zody
authors.forename: Harindra M
authors.initials: HM
authors.lastname: Arachchi
authors.forename: Aaron
authors.initials: A
authors.lastname: Berlin
authors.forename: Sante
authors.initials: S
authors.lastname: Gnerre
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Green
authors.forename: Niall
authors.initials: N
authors.lastname: Lennon
authors.forename: Chad
authors.initials: C
authors.lastname: Nusbaum
mesh_terms: D001483:Base Sequence; D002460:Cell Line; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods*