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FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods
- Becker, Timothy, Lee, Wan-Ping, Leone, Joseph, Zhu, Qihui, Zhang, Chengsheng, Liu, Silvia, Sargent, Jack, Shanker, Kritika, Mil-homens, Adam, Cerveira, Eliza, Ryan, Mallory, Cha, Jane, Navarro, Fabio C. P., Galeev, Timur, Gerstein, Mark, Mills, Ryan E., Shin, Dong-Guk, Lee, Charles, Malhotra, Ankit
- Genome biology 2018 v.19 no.1 pp. 38
- algorithms, genome, high-throughput nucleotide sequencing, humans, models
- Comprehensive and accurate identification of structural variations (SVs) from next generation sequencing data remains a major challenge. We develop FusorSV, which uses a data mining approach to assess performance and merge callsets from an ensemble of SV-calling algorithms. It includes a fusion model built using analysis of 27 deep-coverage human genomes from the 1000 Genomes Project. We identify 843 novel SV calls that were not reported by the 1000 Genomes Project for these 27 samples. Experimental validation of a subset of these calls yields a validation rate of 86.7%. FusorSV is available at https://github.com/TheJacksonLaboratory/SVE .