The Genome Institute Publications

Chromothripsis and human disease: piecing together the shattering process.

Authors

Maher CA, Wilson RK.

Journal

Cell. 2012 Jan 20;148(1-2):29-32.

PubMed

http://www.ncbi.nlm.nih.gov/pubmed/22265399

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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