title: Chromothripsis and human disease: piecing together the shattering process.
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.
authors.affiliation: The Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA. cmaher@dom.wustl.edu
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Maher
authors.forename: Richard K
authors.initials: RK
authors.lastname: Wilson
mesh_terms: D002869:Chromosome Aberrations; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006803:Human Development; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*