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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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Bibliografski detalji
Glavni autori: Nuttle, Xander, Itsara, Andy, Shendure, Jay, Eichler, Evan E.
Format: Artigo
Jezik:Inglês
Izdano: 2014
Teme:
Online pristup: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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