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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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Autori principali: Nuttle, Xander, Itsara, Andy, Shendure, Jay, Eichler, Evan E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Accesso online: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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