{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T21:43:55Z","timestamp":1757540635903,"version":"3.37.3"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T00:00:00Z","timestamp":1667174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"National Science Centre","doi-asserted-by":"publisher","award":["2019\/35\/O\/ST6\/02484","2020\/37\/B\/NZ2\/03757"],"award-info":[{"award-number":["2019\/35\/O\/ST6\/02484","2020\/37\/B\/NZ2\/03757"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Commission Horizon 2020 Marie Sk\u0142odowska-Curie ITN Enhpathy"},{"name":"Molecular Basis of Human enhanceropathies"},{"DOI":"10.13039\/501100004421","name":"Warsaw University of Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004421","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Excellence Initiative: Research University"},{"name":"Laboratory of Bioinformatics and Computational Genomics"},{"name":"Faculty of Mathematics and Information Science, Warsaw University of Technology"},{"name":"Artificial Intelligence HPC"},{"name":"Polish Ministry of Science and Higher Education","award":["7054\/IA\/SP\/2020","2020-08-28"],"award-info":[{"award-number":["7054\/IA\/SP\/2020","2020-08-28"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Summary<\/jats:title>\n                  <jats:p>The detection of the structural variants (SVs) using Illumina sequencing of human DNA is not an easy task. Multiple approaches have been proposed; however, all the methods have their limitations. In this article, we present ConsensuSV pipeline that aids the research in complex variant detection. By using consensus meta-approach, eight independent SV callers are being used to identify a uniform set of high-quality SVs. The pipeline works using raw sequencing data and performs all the necessary steps automatically, significantly reducing the researchers\u2019 time required for processing the data. The output files contain SVs, single nucleotide polymorphisms and Indels. The pipeline uses luigi framework, allowing the software to be run efficiently and parallelly using the high-performance computing infrastructure. We strongly believe that the software is useful to the scientific community interested in the germline variant detection.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>https:\/\/github.com\/SFGLab\/ConsensuSV-pipeline.<\/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\/btac709","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T15:48:39Z","timestamp":1667231319000},"page":"5440-5442","source":"Crossref","is-referenced-by-count":8,"title":["ConsensuSV\u2014from the whole-genome sequencing data to the complete variant list"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6641-8504","authenticated-orcid":false,"given":"Mateusz","family":"Chili\u0144ski","sequence":"first","affiliation":[{"name":"Laboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology , Warsaw 00-662, Poland"},{"name":"Laboratory of Functional and Structural Genomics, Centre of New Technologies, University of Warsaw , Warsaw 02-097, Poland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3840-7610","authenticated-orcid":false,"given":"Dariusz","family":"Plewczynski","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology , Warsaw 00-662, Poland"},{"name":"Laboratory of Functional and Structural Genomics, Centre of New Technologies, University of Warsaw , Warsaw 02-097, Poland"}]}],"member":"286","published-online":{"date-parts":[[2022,10,31]]},"reference":[{"key":"2022121418413659100_btac709-B1","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13059-018-1404-6","article-title":"FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods","volume":"19","author":"Becker","year":"2018","journal-title":"Genome Biol"},{"first-page":"3426","year":"2022","author":"Byrska-Bishop","key":"2022121418413659100_btac709-B2"},{"key":"2022121418413659100_btac709-B3","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1038\/s41467-018-08148-z","article-title":"Multi-platform discovery of haplotype-resolved structural variation in human genomes","volume":"10","author":"Chaisson","year":"2019","journal-title":"Nat. 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