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Dosage sensitivity is a major determinant of human copy number variant pathogenicity

Human copy number variants (CNVs) account for genome variation an order of magnitude larger than single-nucleotide polymorphisms. Although much of this variation has no phenotypic consequences, some variants have been associated with disease, in particular neurodevelopmental disorders. Pathogenic CN...

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Detalles Bibliográficos
Autores principales: Rice, Alan M., McLysaght, Aoife
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309798/
https://www.ncbi.nlm.nih.gov/pubmed/28176757
http://dx.doi.org/10.1038/ncomms14366