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Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

20 May 2014

Abstract excerpt

BACKGROUND: Although the reference human genome sequence was declared finished in 2003, some regions of the genome remain incomplete due to their complex architecture. One such region, 1q21.1-q21.2, is of increasing interest due to its relevance to human disease and evolution. Elucidation of the exact variants behind these associations has been hampered by the repetitive nature of the region and its incomplete...

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PMID: 24885025
DOI: 10.1186/1471-2164-15-387

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