Chromothripsis and Human Disease: Piecing Together the Shattering Process | Zendy

Christopher A. Maher | Zendy; Richard K. Wilson | Zendy

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Chromothripsis and Human Disease: Piecing Together the Shattering Process

Author(s) -

Christopher A. Maher,

Richard K. Wilson

Publication year - 2012

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2012.01.006

Subject(s) - chromothripsis , biology , human genome , computational biology , genomics , genome , process (computing) , disease , genetics , evolutionary biology , gene , genome instability , computer science , dna , dna damage , medicine , pathology , operating system

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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