Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Charles Lee | * |
dc.date.accessioned | 2018-11-21T16:30:36Z | - |
dc.date.available | 2018-11-21T16:30:36Z | - |
dc.date.issued | 2018 | * |
dc.identifier.issn | 1474-7596 | * |
dc.identifier.other | OAK-22248 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/246799 | - |
dc.description.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. © 2018 The Author(s). | * |
dc.description.sponsorship | Ewha Womans University | * |
dc.language | English | * |
dc.publisher | BioMed Central Ltd. | * |
dc.subject | Copy number variation | * |
dc.subject | Genome rearrangements | * |
dc.subject | Next generation sequencing | * |
dc.subject | Structural variation | * |
dc.title | FusorSV: An algorithm for optimally combining data from multiple structural variation detection methods | * |
dc.type | Article | * |
dc.relation.issue | 1 | * |
dc.relation.volume | 19 | * |
dc.relation.index | SCOPUS | * |
dc.relation.journaltitle | Genome Biology | * |
dc.identifier.doi | 10.1186/s13059-018-1404-6 | * |
dc.identifier.wosid | WOS:000427934000001 | * |
dc.identifier.scopusid | 2-s2.0-85044188240 | * |
dc.author.google | Becker T. | * |
dc.author.google | Lee W.-P. | * |
dc.author.google | Leone J. | * |
dc.author.google | Zhu Q. | * |
dc.author.google | Zhang C. | * |
dc.author.google | Liu S. | * |
dc.author.google | Sargent J. | * |
dc.author.google | Shanker K. | * |
dc.author.google | Mil-homens A. | * |
dc.author.google | Cerveira E. | * |
dc.author.google | Ryan M. | * |
dc.author.google | Cha J. | * |
dc.author.google | Navarro F.C.P. | * |
dc.author.google | Galeev T. | * |
dc.author.google | Gerstein M. | * |
dc.author.google | Mills R.E. | * |
dc.author.google | Shin D.-G. | * |
dc.author.google | Lee C. | * |
dc.author.google | Malhotra A. | * |
dc.contributor.scopusid | Charles Lee(23980489900;57290864600) | * |
dc.date.modifydate | 20231123120503 | * |