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dc.contributor.author박희진-
dc.date.accessioned2019-12-10T15:24:17Z-
dc.date.available2019-12-10T15:24:17Z-
dc.date.issued2018-12-
dc.identifier.citationBMC GENOMICS, v. 19, Article no. 944en_US
dc.identifier.issn1471-2164-
dc.identifier.urihttps://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-018-5290-9-
dc.identifier.urihttp://repository.hanyang.ac.kr/handle/20.500.11754/120973-
dc.description.abstractBackgroundRecent advances in sequencing technology have allowed us to investigate personal genomes to find structural variations, which have been studied extensively to identify their association with the physiology of diseases such as cancer. In particular, mobile genetic elements (MGEs) are one of the major constituents of the human genomes, and cause genome instability by insertion, mutation, and rearrangement.ResultWe have developed a new program, iMGEins, to identify such novel MGEs by using sequencing reads of individual genomes, and to explore the breakpoints with the supporting reads and MGEs detected. iMGEins is the first MGE detection program that integrates three algorithmic components: discordant read-pair mapping, split-read mapping, and insertion sequence assembly. Our evaluation results showed its outstanding performance in detecting novel MGEs from simulated genomes, as well as real personal genomes. In detail, the average recall and precision rates of iMGEins are 96.67 and 100%, respectively, which are the highest among the programs compared. In the testing with real human genomes of the NA12878 sample, iMGEins shows the highest accuracy in detecting MGEs within 20bp proximity of the breakpoints annotated.ConclusionIn order to study the dynamics of MGEs in individual genomes, iMGEins was developed to accurately detect breakpoints and report inserted MGEs. Compared with other programs, iMGEins has valuable features of identifying novel MGEs and assembling the MGEs inserted.en_US
dc.description.sponsorshipThe Collaborative Genome Program of the Korea Institute of Marine Science and Technology (KIMST) funded by the Ministry of Oceans and Fisheries (MOF) (No. 20180430) provided financial support to design and develop the study, and the Bio & Medical Technology Development Program of the National Research Foundation of Korea (NRF) funded by the Korean government (2017M3A9F3041232) provided financial support to carry out data analysis and interpretation.en_US
dc.language.isoen_USen_US
dc.publisherBMCen_US
dc.subjectMobile genetic elementsen_US
dc.subjectPaired-end sequencingen_US
dc.subjectLong insertionsen_US
dc.subjectStructural variationsen_US
dc.titleiMGEins: detecting novel mobile genetic elements inserted in individual genomesen_US
dc.typeArticleen_US
dc.relation.volume19-
dc.identifier.doi10.1186/s12864-018-5290-9-
dc.relation.page1-11-
dc.relation.journalBMC GENOMICS-
dc.contributor.googleauthorBae, Junwoo-
dc.contributor.googleauthorLee, Kyeong Won-
dc.contributor.googleauthorIslam, Mohammad Nazrul-
dc.contributor.googleauthorYim, Hyung-Soon-
dc.contributor.googleauthorPark, Heejin-
dc.contributor.googleauthorRho, Mina-
dc.relation.code2018006084-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF ENGINEERING[S]-
dc.sector.departmentDEPARTMENT OF COMPUTER SCIENCE-
dc.identifier.pidhjpark-


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