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Recent segmental duplications in the human genome.

Author information

Affiliations

  • 1. Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA.
      Authors
    • Bailey JA 1
    (1 author)

ORCIDs linked to this article

Science, 01 Aug 2002, 297(5583):1003-1007
https://doi.org/10.1126/science.1072047 PMID: 12169732 

A comment on this article appears in "Are 100,000 "SNPs" useless?" Science. 2002 Nov 22;298(5598):1509; author reply 1509. A comment on this article appears in "Genomics. Gene duplication and evolution." Science. 2002 Aug 9;297(5583):945-7.

Abstract 

Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity. We mapped 169 large regions flanked by highly similar duplications. Twenty-four of these hot spots of genomic instability have been associated with genetic disease. Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity.

Full text links 

Read article at publisher's site: https://doi.org/10.1126/science.1072047

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Funding 

Funders who supported this work.

NCI NIH HHS (1)

NHGRI NIH HHS (1)

NIGMS NIH HHS (2)