Closing gaps in the human genome using sequencing by synthesis

Genome Biol. 2009;10(6):R60. doi: 10.1186/gb-2009-10-6-r60. Epub 2009 Jun 2.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Sequence
  • Cell Line
  • Chromosomes, Human, Pair 15 / genetics
  • Genome, Human*
  • Humans
  • Sequence Analysis, DNA / methods*