Segmental duplications (SDs) are segments of DNA with near-identical sequence.
Segmental duplications give rise to low copy repeats (LCRs) and 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.
The two widely accepted methods for SD detection are whole genome assembly comparison (WGAC) and whole genome shotgun sequence detection (WSSD).
- Copy number variation
- Molecular evolution
- Human genome
- Comparative genomics
- Tandem exon duplication
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