Ontology highlight
ABSTRACT:
SUBMITTER: Nuttle X
PROVIDER: S-EPMC4114152 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Nuttle Xander X Itsara Andy A Shendure Jay J Eichler Evan E EE
Nature protocols 20140529 6
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 paralogous sequences that cannot be specifically assayed using hybridization-based methods. Here we provide a protocol for breakpoint resolution with sequence-level precision. Massively parallel sequencing is ...[more]