Fechando as lacunas no genoma humano usando sequenciamento por síntese

Closing gaps in the human genome using sequencing by synthesis

Manuel Garber*, Michael C Zody*†, Harindra M Arachchi*, Aaron Berlin*,
Sante Gnerre*, Lisa M Green*, Niall Lennon* and Chad Nusbaum*

Addresses: *Genome Sequencing and Analysis Program, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA 02142, USA.

†Department of Medical Biochemistry and Microbiology, Uppsala University, SE-751 24 Uppsala, Sweden.

Correspondence: Chad Nusbaum. Email: chad@broad.mit.edu

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.

+++++

PDF gratuito do artigo aqui. OPEN ACCESS.