Abstract
A combination of approaches was used to close 8 of the 11 gaps in the original sequence of human chromosome 22, and to generate a total 1.018 Mb of new sequence.
Highlights
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
In order to represent this gene in a functional form in the reference sequence, we identified from the clone map a RPCI-4 P1 artificial chromosome (PAC) containing a full copy of CYP2D6
We generated 724 kb of new sequence to close and extend into these gaps, and the final sequences were incorporated into the latest version of the human chromosome 22 reference sequence (Chr_22 release 4 [26], to be incorporated into the release of the human genome reference sequence: HGRC 37)
Summary
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. The finished sequence contained 2.85 Gb and was estimated to cover 99% of the euchromatin [1]. Far the human genome is the only gigabase scale sequence to obtain the necessary high accuracy and near completeness to be published as a 'finished' standard, the mouse genome is expected to join it soon. While finishing of the sequence was a major milestone, for completists there remain the nagging questions of whether it is possible to close the gaps, and what lies in those missing sequences
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