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Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing
The most common recurrent copy number variants associated with autism, developmental delay, and epilepsy are flanked by segmental duplications. Complete genetic characterization of these events is challenging because their breakpoints often occur within high-identity, copy number polymorphic paralog...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4114152/ https://ncbi.nlm.nih.gov/pubmed/24874815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nprot.2014.096 |
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