Segmental duplications: an 'expanding' role in genomic instability and disease - PubMed (original) (raw)

Review

. 2001 Oct;2(10):791-800.

doi: 10.1038/35093500.

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• PMID: 11584295
• DOI: 10.1038/35093500

Review

Segmental duplications: an 'expanding' role in genomic instability and disease

B S Emanuel et al. Nat Rev Genet. 2001 Oct.

Abstract

The knowledge that specific genetic diseases are caused by recurrent chromosomal aberrations has indicated that genomic instability might be directly related to the structure of the regions involved. The sequencing of the human genome has directed significant attention towards understanding the molecular basis of such recombination 'hot spots'. Segmental duplications have emerged as a significant factor in the aetiology of disorders that are caused by abnormal gene dosage. These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement.

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