Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Closing gaps in the human genome using sequencing by synthesis. | Open Access Method 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@ Published 2 June 2009 Genome Biology 2009 I0 R60 doi gb-2009- 10-6-r60 The electronic version of this article is the complete one and can be found online at http 2009 10 6 R60 Received 24 February 2009 Revised 23 April 2009 Accepted 2 June 2009 2009 Garber et al. licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. 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 l5. Background The finished sequence of human chromosome 15 contained nine sequence gaps at the time of publication 1 . Six of these gaps were flanked by segmental duplications and recent work showed that one of these gaps could be closed by resolving assembly issues in segmental duplications 2 . A similar process has recently been undertaken genome-wide 3 . Three of the chromosome 15 gaps occur in regions of unique sequence with .
