Segmental duplication

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Segmental duplications (SDs) are segments of DNA with near-identical sequence.[1]

Segmental duplications, also known as low copy repeats (LCRs), are believed to have played a role in creating new primate genes as reflected in human genetic variation. In humans, chromosomes Y and 22 have the greatest proportion of SDs: 50.4% and 11.9% respectively.[2]

Detection method[edit]

The two widely accepted methods for SD detection are whole genome assembly comparison (WGAC) and whole genome shotgun sequence detection (WSSD).

See also[edit]


  1. ^ Genome-wide detection of segmental duplications
  2. ^ Bailey, Jeffrey A.; Eichler, EE (2006). "Primate segmental duplications: crucibles of evolution, diversity and disease". Nature Reviews Genetics. 7 (7): 552–64. PMID 16770338. doi:10.1038/nrg1895.