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The DNA sequence and biological annotation of human chromosome 1

Gregory, S.G.; Barlow, K.F.; McLay, K.E.; Kaul, R.; Swarbreck, D.; Dunham, A.; Howe, K.L.; Woodfine, K.; Spencer, C.C.A.; Jones, M.C.; Andrews, Thomas Daniel

Description

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes...[Show more]

CollectionsANU Research Publications
Date published: 2006
Type: Journal article
URI: http://hdl.handle.net/1885/38100
Source: Nature
DOI: 10.1038/nature04727

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