Article
Duplication hotspots, rare genomic disorders, and common disease.
Current opinion in genetics & development - 1 Jun 2009
Mefford Heather C, Eichler Evan E
Abstract excerpt
The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hotspots and their association with both syndromic and nonsyndromic diseases. Studies of common complex genetic disease show that a...
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