Literature DB >> 22265399

Chromothripsis and human disease: piecing together the shattering process.

Christopher A Maher1, Richard K Wilson.   

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.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 22265399      PMCID： PMC3658123          DOI： 10.1016/j.cell.2012.01.006

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  19 in total

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4.  Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

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Review 10.  Chromothripsis: chromosomes in crisis.

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