Chromothripsis and human disease: piecing together the shattering process

Cell. 2012 Jan 20;148(1-2):29-32. doi: 10.1016/j.cell.2012.01.006.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Aberrations*
  • Genome, Human*
  • High-Throughput Nucleotide Sequencing
  • Human Development
  • Humans
  • Mutation
  • Neoplasms / genetics*