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Cell. 2012 Jan 20;148(1-2):29-32. doi: 10.1016/j.cell.2012.01.006.

Chromothripsis and human disease: piecing together the shattering process.

Author information

1
The Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA. cmaher@dom.wustl.edu

Abstract

The unprecedented resolution of high-throughput genomics has enabled the recent discovery of a phenomenon by which specific regions of the genome are shattered and then stitched together via a single devastating event, referred to as chromothripsis. Potential mechanisms governing this process are now emerging, with implications for our understanding of the role of genomic rearrangements in development and disease.

PMID:
22265399
PMCID:
PMC3658123
DOI:
10.1016/j.cell.2012.01.006
[Indexed for MEDLINE]
Free PMC Article

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