A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.

ABSTRACT: Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common variations in genomic architecture. Segmental duplications (SDs) constitute up to 5 per cent of the genome and play an important role in generating additional rearrangements and in disease aetiology. We conducted a genome-wide database search for a form of SD, palindromic segmental duplications (PSDs), which consist of paired, inverted duplications, and which predispose to inversions, duplications and deletions. The survey was complemented by a search for SDs in tandem orientation (TSDs) that can mediate duplications and deletions but not inver

SUBMITTER: Mehan MR 

PROVIDER: S-EPMC3525102 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature