Báo cáo y học: "Finishing the finished human chromosome 22 sequenc"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Finishing the finished human chromosome 22 sequence. | Open Access Research Finishing the finished human chromosome 22 sequence Charlotte G Cole Owen T McCann John E Collins Karen Oliver David Willey Susan M Gribble Fengtang Yang Karen McLaren Jane Rogers Zemin Ning David M Beare and Ian Dunham Addresses The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SA UK. TMBL-European Bioinformatics Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SD UK. n These authors contributed equally to this work. Correspondence Ian Dunham. Email dunham@ Published 13 May 2008 Genome Biology 2008 9 R78 doi 186 gb-2008-9-5-r78 The electronic version of this article is the complete one and can be found online at http 2008 9 5 R78 Received 19 February 2008 Revised 10 April 2008 Accepted 1 3 May 2008 2008 Cole 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 Background Although the human genome sequence was declared complete in 2004 the sequence was interrupted by 341 gaps of which 308 lay in an estimated approximately 28 Mb of euchromatin. While these gaps constitute only approximately 1 of the sequence knowledge of the full complement of human genes and regulatory elements is incomplete without their sequences. Results We have used a combination of conventional chromosome walking aided by the availability of end sequences in fosmid and bacterial artificial chromosome BAC libraries whole chromosome shotgun sequencing comparative genome analysis and long PCR to finish 8 of the 11 gaps in the initial chromosome 22 sequence. In addition we have patched four regions of the initial sequence where the original clones were found to be deleted or contained a deletion allele of a known gene with a further 126 kb .

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