Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

Recurrent deletions have been associated with numerous diseases and genomic disorders. Few, however, have been resolved at the molecular level because their breakpoints often occur in highly copy-number-polymorphic duplicated sequences. We present an approach that uses a combination of somatic cell...

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Detalhes bibliográficos
Main Authors: Itsara, Andy, Vissers, Lisenka E.L.M., Steinberg, Karyn Meltz, Meyer, Kevin J., Zody, Michael C., Koolen, David A., de Ligt, Joep, Cuppen, Edwin, Baker, Carl, Lee, Choli, Graves, Tina A., Wilson, Richard K., Jenkins, Robert B., Veltman, Joris A., Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322237/
https://ncbi.nlm.nih.gov/pubmed/22482802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.02.013
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