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The finished DNA sequence of human chromosome 12

Scherer, SE; Muzny, DM; Buhay, CJ; Chen, R; Cree, A; Ding, Y; Dugan-Rocha, S; ... Baylor Coll Med Human Genome Seque, ; + view all (2006) The finished DNA sequence of human chromosome 12. NATURE , 440 (7082) 346 - 351. 10.1038/nature04569.

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Abstract

Human chromosome 12 contains more than 1,400 coding genes(1) and 487 loci that have been directly implicated in human disease(2). The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome(3). Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing similar to 4.5% of the human genome. Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. The rate of base substitutions in recent evolutionary history shows an overall slowing in hominids compared with primates and rodents.

Type: Article
Title: The finished DNA sequence of human chromosome 12
DOI: 10.1038/nature04569
Keywords: HUMAN-GENOME, PERICENTRIC-INVERSION, MOLECULAR CLOCKS, PHYSICAL MAP, EVOLUTION, LINEAGES, MONKEYS, MOUSE, APES
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Pre-clinical and Fundamental Science
URI: http://discovery.ucl.ac.uk/id/eprint/146989
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