{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:52:39Z","timestamp":1775638359633,"version":"3.50.1"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"20","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: The development of high-throughput sequencing technologies has enabled novel methods for detecting structural variants (SVs). Current methods are typically based on depth of coverage or pair-end mapping clusters. However, most of these only report an approximate location for each SV, rather than exact breakpoints.<\/jats:p>\n               <jats:p>Results: We have developed pair-read informed split mapping (PRISM), a method that identifies SVs and their precise breakpoints from whole-genome resequencing data. PRISM uses a split-alignment approach informed by the mapping of paired-end reads, hence enabling breakpoint identification of multiple SV types, including arbitrary-sized inversions, deletions and tandem duplications. Comparisons to previous datasets and simulation experiments illustrate PRISM\u2019s high sensitivity, while PCR validations of PRISM results, including previously uncharacterized variants, indicate an overall precision of \u223c90%.<\/jats:p>\n               <jats:p>Availability: PRISM is freely available at http:\/\/compbio.cs.toronto.edu\/prism.<\/jats:p>\n               <jats:p>Contact: \u00a0yue.jiang.hit@gmail.com (YJ); ydwang@hit.edu.cn (YW); brudno@cs.toronto.edu (MB)<\/jats:p>\n               <jats:p>Supplementary Information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/bts484","type":"journal-article","created":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T04:48:10Z","timestamp":1343796490000},"page":"2576-2583","source":"Crossref","is-referenced-by-count":105,"title":["PRISM: Pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants"],"prefix":"10.1093","volume":"28","author":[{"given":"Yue","family":"Jiang","sequence":"first","affiliation":[{"name":"1 Center for Biomedical Informatics, School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China, 2Department of Computer Science, The Donnelly Centre, University of Toronto, M5S 3G4 and 3Centre for Computational Medicine, Hospital for Sick Children, Toronto, M5G 1X8, Canada"},{"name":"1 Center for Biomedical Informatics, School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China, 2Department of Computer Science, The Donnelly Centre, University of Toronto, M5S 3G4 and 3Centre for Computational Medicine, Hospital for Sick Children, Toronto, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yadong","family":"Wang","sequence":"additional","affiliation":[{"name":"1 Center for Biomedical Informatics, School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China, 2Department of Computer Science, The Donnelly Centre, University of Toronto, M5S 3G4 and 3Centre for Computational Medicine, Hospital for Sick Children, Toronto, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Brudno","sequence":"additional","affiliation":[{"name":"1 Center for Biomedical Informatics, School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China, 2Department of Computer Science, The Donnelly Centre, University of Toronto, M5S 3G4 and 3Centre for Computational Medicine, Hospital for Sick Children, Toronto, M5G 1X8, Canada"},{"name":"1 Center for Biomedical Informatics, School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China, 2Department of Computer Science, The Donnelly Centre, University of Toronto, M5S 3G4 and 3Centre for Computational Medicine, Hospital for Sick Children, Toronto, M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2012,7,31]]},"reference":[{"key":"2023012513140206900_bts484-B1","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1101\/gr.114876.110","article-title":"CNVnator: an approach to discover, genotype and characterize typical and atypical CNVs from family and population genome sequencing","volume":"21","author":"Abyzov","year":"2011","journal-title":"Genome Res."},{"key":"2023012513140206900_bts484-B2","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/nmeth.1363","article-title":"BreakDancer: an algorithm for high-resolution mapping of genomic structural variation","volume":"6","author":"Chen","year":"2009","journal-title":"Nat. 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