FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods
Author:
Funder
National Human Genome Research Institute
National Cancer Institute
Ewha Womans University
Publisher
Springer Science and Business Media LLC
Link
http://link.springer.com/content/pdf/10.1186/s13059-018-1404-6.pdf
Reference30 articles.
1. Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 2015;526:75–81. https://doi.org/10.1038/nature15394
2. Taberlay PC, Achinger-Kawecka J, Lun AT, Buske FA, Sabir K, Gould CM, et al. Three-dimensional disorganization of the cancer genome occurs coincident with long-range genetic and epigenetic alterations. Genome Res. 2016;26:719–31. https://doi.org/10.1101/gr.201517.115
3. Manolio TA, Collins FS, Cox NJ, Goldstein GB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747–53. https://doi.org/10.1038/nature08494
4. Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet. 2010;11:446–50. https://doi.org/10.1038/nrg2809
5. Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, et al. Extensive sequencing of seven human genomes to characterize benchmark reference materials. Sci Data. 2016;3:160025. https://doi.org/10.1038/sdata.2016.25
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