Human Genome Project: Chromosome 1

The Wellcome Trust Sanger Institute played a substantial role in the sequencing and interpretation of the human genome, contributing almost one third of the gold-standard sequence, published in 2004. The Institute engaged in collaborative projects to sequence 9 of the 23 human chromosomes. This document is historical, presented here to provide a complete record. It might not have been updated and is a contemporary account.

Chromosome 1 publication front cover.

Chromosome 1 publication front cover. [Reprinted by permission from Macmillan Publishers Ltd: [Nature] (441 (7091): 255 - 382), ©2006]

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Chromosome 1 is the largest human chromosome, comprising 8% of the human genome. Over 350 human diseases are associated with disruptions in the sequence to chromosome 1, including neurological and developmental disorders, cancers and Mendelian disorders, for which many of the corresponding genes have not yet been identified. We have generated 223.5Mb of finished sequence which accounts for 99.4% of the euchromatic region of the chromosome, and have manually annotated 3,141 gene structures and 991 pseudogenes. The finished of chromosome 1 has enabled us to draw together an accurate framework to relate genetic and biological features such as sequence variation, selection, recombination and replication timing to genomic sequence features, which will provide a strong foundation for future studies.

References

  • The DNA sequence and biological annotation of human chromosome 1.

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    Nature 2006;441;7091;315-21

* quick link - http://q.sanger.ac.uk/usxczfc6