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

@inproceedings{Hermetz2014LargeID,
  title={Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism},
  author={Karen E. Hermetz and Scott Newman and Karen N. Conneely and Christa L. Martin and Blake C. Ballif and Lisa G. Shaffer and Jannine D. Cody and M Katharine Rudd},
  booktitle={PLoS genetics},
  year={2014}
}
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… CONTINUE READING