Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology
Link
https://www.nature.com/articles/nprot.2014.096.pdf
Reference38 articles.
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2. Stankiewicz, P. & Lupski, J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74–82 (2002).
3. Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J. & Eichler, E.E. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 11, 1005–1017 (2001).
4. Stankiewicz, P. & Lupski, J.R. Structural variation in the human genome and its role in disease. Annu. Rev. Med. 61, 437–455 (2010).
5. Lupski, J.R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).
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