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samanthaleejensen edited this page Dec 11, 2018 · 1 revision

Coming soon.

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Relevant papers

Baker, M. Structural variation: the genome’s hidden architecture. Nature Methods 9, 133–137 (2012).
Layer, R. M., Chiang, C., Quinlan, A. R. & Hall, I. M. LUMPY: a probabilistic framework for structural variant discovery. Genome Biology 15, R84 (2014).
Fan, X., Abbott, T. E., Larson, D. & Chen, K. BreakDancer – Identification of Genomic Structural Variation from Paired-End Read Mapping. Curr Protoc Bioinformatics 2014, (2014).
Handsaker, R. E., Korn, J. M., Nemesh, J. & McCarroll, S. A. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat. Genet. 43, 269–276 (2011).
Abyzov, A., Urban, A. E., Snyder, M. & Gerstein, M. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21, 974–984 (2011).
Lam, H. Y. K. et al. Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nature Biotechnology 28, 47–55 (2010).
Klambauer, G. et al. cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. Nucleic Acids Res 40, e69–e69 (2012).
Rausch, T. et al. DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics 28, i333–i339 (2012).
Becker, T. et al. FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods. Genome Biology 19, 38 (2018).
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