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George Carvalho authored Jun 22, 2018
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Expand Up @@ -53,6 +53,7 @@ Relevant studies with Structual Variants and Copy Number Variants in NGS (Genome
* [2018 FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods](https://genomebiology.biomedcentral.com/articles/10.1186/s13059-018-1404-6)
* [2018 SvABA: genome-wide detection of structural variants and indels by local assembly](https://genome.cshlp.org/content/28/4/581.abstract?platform=hootsuite)
* [2018 Global characterization of copy number variants in epilepsy patients from whole genome sequencing](http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007285)
* [2018 Human copy number variants are enriched in regions of low mappability](https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gky538/5042037#.Wy09sMRev6o.twitter)

## WES
* [2015 CODEX: a normalization and copy number variation detection method for whole exome sequencing](https://academic.oup.com/nar/article/43/6/e39/2453417/CODEX-a-normalization-and-copy-number-variation)
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