{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T23:20:02Z","timestamp":1771456802124,"version":"3.50.1"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T00:00:00Z","timestamp":1531785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"BC Cancer Foundation, Genome BC and Genome Canada"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Summary<\/jats:title>\n                  <jats:p>Reliably identifying genomic rearrangements and interpreting their impact is a key step in understanding their role in human cancers and inherited genetic diseases. Many short read algorithmic approaches exist but all have appreciable false negative rates. A common approach is to evaluate the union of multiple tools increasing sensitivity, followed by filtering to retain specificity. Here we describe an application framework for the rapid generation of structural variant consensus, unique in its ability to visualize the genetic impact and context as well as process both genome and transcriptome data.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>http:\/\/mavis.bcgsc.ca<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/bty621","type":"journal-article","created":{"date-parts":[[2018,7,14]],"date-time":"2018-07-14T17:43:43Z","timestamp":1531590223000},"page":"515-517","source":"Crossref","is-referenced-by-count":27,"title":["MAVIS: merging, annotation, validation, and illustration of structural variants"],"prefix":"10.1093","volume":"35","author":[{"given":"Caralyn","family":"Reisle","sequence":"first","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Karen L","family":"Mungall","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Caleb","family":"Choo","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Daniel","family":"Paulino","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Dustin W","family":"Bleile","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Amir","family":"Muhammadzadeh","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Andrew J","family":"Mungall","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Richard A","family":"Moore","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Inna","family":"Shlafman","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Robin","family":"Coope","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Stephen","family":"Pleasance","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Yussanne","family":"Ma","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"}]},{"given":"Steven J M","family":"Jones","sequence":"additional","affiliation":[{"name":"Canada\u2019s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada"},{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada and"},{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada"}]}],"member":"286","published-online":{"date-parts":[[2018,7,17]]},"reference":[{"key":"2023013107244102500_bty621-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":"2023013107244102500_bty621-B2","doi-asserted-by":"crossref","first-page":"7256","DOI":"10.1038\/ncomms8256","article-title":"Analysis of deletion breakpoints from 1 092 humans reveals details of mutation mechanisms","volume":"6","author":"Abyzov","year":"2015","journal-title":"Nat. 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