Dataset Information


Homo sapiens

ABSTRACT: Large inverted duplications form via a hairpin mechanism

ORGANISM(S): Homo sapiens  



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Large inverted duplications in the human genome form via a fold-back mechanism.

Hermetz Karen E KE   Newman Scott S   Conneely Karen N KN   Martin Christa L CL   Ballif Blake C BC   Shaffer Lisa G LG   Cody Jannine D JD   Rudd M Katharine MK  

PLoS genetics 20140130 1

Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors. There are several models for inverted duplication formation, most of which include a dicentric chromosome intermediate followed by breakage-fusion-bridge (BFB) cycles, but the mechanisms that give rise to the inverted dicentric chromosome in most inverted dup  ...[more]

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