FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods
dc.contributor.author | Becker, Timothy | |
dc.contributor.author | Lee, Wan-Ping | |
dc.contributor.author | Leone, Joseph | |
dc.contributor.author | Zhu, Qihui | |
dc.contributor.author | Zhang, Chengsheng | |
dc.contributor.author | Liu, Silvia | |
dc.contributor.author | Sargent, Jack | |
dc.contributor.author | Shanker, Kritika | |
dc.contributor.author | Mil-homens, Adam | |
dc.contributor.author | Cerveira, Eliza | |
dc.contributor.author | Ryan, Mallory | |
dc.contributor.author | Cha, Jane | |
dc.contributor.author | Navarro, Fabio C P | |
dc.contributor.author | Galeev, Timur | |
dc.contributor.author | Gerstein, Mark | |
dc.contributor.author | Mills, Ryan E | |
dc.contributor.author | Shin, Dong-Guk | |
dc.contributor.author | Lee, Charles | |
dc.contributor.author | Malhotra, Ankit | |
dc.date.accessioned | 2018-03-25T06:28:54Z | |
dc.date.available | 2018-03-25T06:28:54Z | |
dc.date.issued | 2018-03-20 | |
dc.identifier.citation | Genome Biology. 2018 Mar 20;19(1):38 | |
dc.identifier.uri | http://dx.doi.org/10.1186/s13059-018-1404-6 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/142804 | |
dc.description.abstract | Abstract 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 . | |
dc.title | FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods | |
dc.type | Article | en_US |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/142804/1/13059_2018_Article_1404.pdf | |
dc.language.rfc3066 | en | |
dc.rights.holder | The Author(s). | |
dc.date.updated | 2018-03-25T06:28:58Z | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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