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Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

30 Jan 2014

Abstract excerpt

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...

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PMID: 24497845
DOI: 10.1371/journal.pgen.1004139

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