Finishing the finished human chromosome 22 sequence
2008

Closing Gaps in the Human Chromosome 22 Sequence

publication Evidence: high

Author Information

Author(s): Cole Charlotte G, McCann Owen T, Collins John E, Oliver Karen, Willey David, Gribble Susan M, Yang Fengtang, McLaren Karen, Rogers Jane, Ning Zemin, Beare David M, Dunham Ian

Primary Institution: The Wellcome Trust Sanger Institute

Hypothesis

Can the gaps in the human chromosome 22 sequence be closed using a combination of sequencing techniques?

Conclusion

The study successfully closed 8 out of 11 gaps in the human chromosome 22 sequence, generating 1.018 Mb of new sequence.

Supporting Evidence

  • Eight out of eleven gaps in the human chromosome 22 sequence were successfully closed.
  • Over 1.018 Mb of new sequence was generated.
  • Six of the seven gaps in 22q13 were closed using a combination of techniques.

Takeaway

Scientists worked hard to fill in missing pieces of the human chromosome 22, adding a lot of new information to our understanding of it.

Methodology

A combination of chromosome walking, whole chromosome shotgun sequencing, comparative genome analysis, and long PCR was used to close gaps.

Limitations

Some gaps remain unclosed, particularly those associated with repetitive sequences.

Digital Object Identifier (DOI)

10.1186/gb-2008-9-5-r78

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