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