Article
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell - 23 Feb 2017
Liu Pengfei, Yuan Bo, Carvalho Claudia M B, Wuster Arthur, Walter Klaudia, Zhang Ling, Gambin Tomasz, Chong Zechen, Campbell Ian M, Coban Akdemir Zeynep, Gelowani Violet, Writzl Karin, Bacino Carlos A, Lindsay Sarah J, Withers Marjorie, Gonzaga-Jauregui Claudia, Wiszniewska Joanna, Scull Jennifer, Stankiewicz Paweł, Jhangiani Shalini N, Muzny Donna M, Zhang Feng, Chen Ken, Gibbs Richard A, Rautenstrauss Bernd, Cheung Sau Wai, Smith Janice, Breman Amy, Shaw Chad A, Patel Ankita, Hurles Matthew E, Lupski James R
Abstract excerpt
De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities. We describe a multiple dnCNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional dnCNVs. These CNVs originate from independent formation incidences, are predominantly tandem duplications or complex gains,...
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