Human chromosome 12 contains more than 1,400 coding genes1 and 487 loci that have been directly implicated in human disease2. The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome3. Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing ∼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.
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