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Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism
2014
PLoS Genetics
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
doi:10.1371/journal.pgen.1004139
pmid:24497845
pmcid:PMC3907307
fatcat:xorlxceqszatxhwcp7dp2t5wdq