Accurate detection of complex structural variations using single-molecule sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology,Biochemistry,Biotechnology
Link
http://www.nature.com/articles/s41592-018-0001-7.pdf
Reference48 articles.
1. Weischenfeldt, J., Symmons, O., Spitz, F. & Korbel, J. O. Phenotypic impact of genomic structural variation: insights from and for human disease. Nat. Rev. Genet. 14, 125–138 (2013).
2. Lupski, J. R. Structural variation mutagenesis of the human genome: impact on disease and evolution. Environ. Mol. Mutagen. 56, 419–436 (2015).
3. Macintyre, G., Ylstra, B. & Brenton, J. D. Sequencing structural variants in cancer for precision therapeutics. Trends Genet. 32, 530–542 (2016).
4. Hedges, D. J. et al. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Mol. Autism 3, 2 (2012).
5. Rovelet-Lecrux, A. et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet. 38, 24–26 (2006).
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