Identification and characterization of primate-specific duplications and an assessment of intra-specific patterns of selection and copy-number variation

Segmental Duplications (SDs) can be defined as blocks of DNA ranging from 1-400kb in length with copies found in multiple sites and typically share high sequence similarity (>90%). Studies based in both experimental and computational analyses show that ~5% of the human genome is composed of duplicated sequences. More generally, primate genomes have been found enriched for this complex patterns of interspersed segmental duplications.