A unifying model that explains the origins of human inverted copy number variants.
With the release of the telomere-to-telomere human genome sequence and the availability of both long-read sequencing and optical genome mapping techniques, the identification of copy number variants (CNVs) and other structural variants is providing new insights into human genetic disease. Different...
| Autores principales: | , , |
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| Formato: | Artículo |
| Lenguaje: | English |
| Publicado: |
Public Library of Science (PLoS)
2024-01-01
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| Colección: | PLoS Genetics |
| Acceso en línea: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1011091&type=printable |