{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,4]],"date-time":"2024-08-04T11:59:41Z","timestamp":1722772781176},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2016,10,12]],"date-time":"2016-10-12T00:00:00Z","timestamp":1476230400000},"content-version":"vor","delay-in-days":342,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: Calling changes in DNA, e.g. as a result of somatic events in cancer, requires analysis of multiple matched sequenced samples. Events in low-mappability regions of the human genome are difficult to encode in variant call files and have been under-reported as a result. However, they can be described accurately through thesaurus annotation\u2014a technique that links multiple genomic loci together to explicate a single variant.<\/jats:p>\n               <jats:p>Results: We here describe software and benchmarks for using thesaurus annotation to detect point changes in DNA from matched samples. In benchmarks on matched normal\/tumor samples we show that the technique can recover between five and ten percent more true events than conventional approaches, while strictly limiting false discovery and being fully consistent with popular variant analysis workflows. We also demonstrate the utility of the approach for analysis of de novo mutations in parents\/child families.<\/jats:p>\n               <jats:p>Availability and implementation: Software performing thesaurus annotation is implemented in java; available in source code on github at GeneticThesaurus (https:\/\/github.com\/tkonopka\/GeneticThesaurus) and as an executable on sourceforge at geneticthesaurus (https:\/\/sourceforge.net\/projects\/geneticthesaurus). Mutation calling is implemented in an R package available on github at RGeneticThesaurus (https:\/\/github.com\/tkonopka\/RGeneticThesaurus).<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <jats:p>Contact: \u00a0tomasz.konopka@ludwig.ox.ac.uk<\/jats:p>","DOI":"10.1093\/bioinformatics\/btv654","type":"journal-article","created":{"date-parts":[[2015,11,7]],"date-time":"2015-11-07T02:04:32Z","timestamp":1446861872000},"page":"657-663","source":"Crossref","is-referenced-by-count":4,"title":["Comparison of genetic variants in matched samples using thesaurus annotation"],"prefix":"10.1093","volume":"32","author":[{"given":"Tomasz","family":"Konopka","sequence":"first","affiliation":[{"name":"Ludwig Institute for Cancer Research, University of Oxford, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian M.B.","family":"Nijman","sequence":"additional","affiliation":[{"name":"Ludwig Institute for Cancer Research, University of Oxford, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2015,11,5]]},"reference":[{"key":"2023020110431824400_btv654-B1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/nbt.2514","article-title":"Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples","volume":"31","author":"Cibulskis","year":"2013","journal-title":"Nat. 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