TY - JOUR
T1 - Chromothripsis and human disease
T2 - Piecing together the shattering process
AU - Maher, Christopher A.
AU - Wilson, Richard K.
N1 - Funding Information:
C.A.M. is funded by an NIH grant R00CA149182-03 and a Prostate Cancer Foundation Young Investigator Award.
PY - 2012/1/20
Y1 - 2012/1/20
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84863393824&partnerID=8YFLogxK
U2 - 10.1016/j.cell.2012.01.006
DO - 10.1016/j.cell.2012.01.006
M3 - Review article
C2 - 22265399
AN - SCOPUS:84863393824
SN - 0092-8674
VL - 148
SP - 29
EP - 32
JO - Cell
JF - Cell
IS - 1-2
ER -