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Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

Human chromosome 7: DNA sequence and biology.

Author information

  • 1Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8. steve@genet.sickkids.on.ca

Abstract

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

PMID:
12690205
PMCID:
PMC2882961
DOI:
10.1126/science.1083423
[PubMed - indexed for MEDLINE]
Free PMC Article
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