Mosaic CNV Study published in Science magazine

Michael McConnell, Assistant Professor in the Department of Biochemistry & Molecular Genetics, and affiliate faculty member of CPHG, along with his colleagues just published a new study featured in Science magazine. In this research, two recently developed single-cell genomic approaches to map DNA copy number variations (CNVs) were applied to single human neurons. The study revealed that 13 to 41% of neurons have at least one megabase-scale de novo CNV, and that deletions are more common than duplications. The results show that mosaic CNV is abundant in human neurons. Mosaic copy number variation in human neurons was published in the Nov 1, 2013 issue of Science.

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