文献_2014-Single-Cell, Genome-wide Sequencing identifies clinal somatic copy-number variation in the human brain.pdfVIP

Cell Reports Report Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain Xuyu Cai,1,2,3,4,6 Gilad D. Evrony,1,2,3,4 Hillel S. Lehmann,1,2,3 Princess C. Elhosary,1,2,3 Bhaven K. Mehta,1,2,3 Annapurna Poduri,1,2,3,5 and Christopher A. Walsh1,2,3,4,* 1Division of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, MA 02115, USA 2Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA 3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA 4Program of Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA 5Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA 6Present address: Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA *Correspondence: christopher.walsh@ /10.1016/j.celrep.2014.07.043 This is an open access article under the CC BY license (/licenses/by/3.0/). SUMMARY prenatal brain development have been linked to brain malforma- tions such as hemimegalencephaly (HMG), in which one hemi- De novo copy-number variants (CNVs) can cause sphere of the brain is abnormally enlarged, resulting in severe neuropsychiatric disease, but the degree to which neurological defects, including epilepsy and intellectual disability they occur somatically, and during development, (Lee et al., 2012; Poduri et al., 2012). is unknown. Single-cell w