Chromothripsis and human disease: piecing together the shattering process.
review · Level V
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- Record sourced from PubMed, PMID 22265399.
- Also identified by DOI 10.1016/j.cell.2012.01.006 and PMC identifier 3658123.
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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.
Medical subject headings
- Chromosome Aberrations
- Genome, Human
- Neoplasms