Chromothripsis and human disease: piecing together the shattering process |
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Authors: | Maher Christopher A Wilson Richard K |
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Affiliation: | The Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA. cmaher@dom.wustl.edu |
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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. |
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