Chromothripsis and Human Disease: Piecing Together the Shattering Process

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Chromothripsis and Human Disease: Piecing Together the Shattering Process

Maher, Christopher A.; Wilson, Richard K.

Cell, 01/2012, Volume: 148, Issue: 1-2

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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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Maher, Christopher A. | Wilson, Richard K.

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