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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group
2017
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| 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 |