2012•The American Journal of Human GeneticsOpen access

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

Andy Itsara, Lisenka E.L.M. Vissers, Karyn Meltz Steinberg, Kevin J. Meyer, Michael C. Zody, David A. Koolen, Joep de Ligt, Edwin Cuppen, Carl Baker, Choli Lee, Tina Graves, Richard K. Wilson, Robert B. Jenkins, Joris A. Veltman, Evan E. Eichler

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Key concepts: Breakpoint, Non-allelic homologous recombination, Biology, Genetics, Segmental duplication, Gene duplication, Genome, Copy-number variation