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As part of an immunoglobulin\/T cell receptor\u2010based minimal residual disease (<jats:styled-content style=\"fixed-case\">MRD<\/jats:styled-content>) assessment of acute lymphoblastic leukaemia patients, we assessed the performance and feasibility of the replacement of the first steps of the approach based on <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> isolation and Sanger sequencing, using a <jats:styled-content style=\"fixed-case\">HTS<\/jats:styled-content> protocol combined with bioinformatics analysis and visualization using the Vidjil software. We prospectively analysed the diagnostic and relapse samples of 34 paediatric patients, thus identifying 125 leukaemic clones with recombinations on multiple loci (<jats:italic><jats:styled-content style=\"fixed-case\">TRG<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">TRD<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">IGH<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">IGK<\/jats:styled-content><\/jats:italic>), including Dd2\/Dd3 and Intron\/<jats:styled-content style=\"fixed-case\">KDE<\/jats:styled-content> rearrangements. Sequencing failures were halved (14% vs. 34%, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.0007), enabling more patients to be monitored. Furthermore, more markers per patient could be monitored, reducing the probability of false negative <jats:styled-content style=\"fixed-case\">MRD<\/jats:styled-content> results. The whole analysis, from sample receipt to clinical validation, was shorter than our current diagnostic protocol, with equal resources. V(D)J recombination was successfully assigned by the software, even for unusual recombinations. This study emphasizes the progress that <jats:styled-content style=\"fixed-case\">HTS<\/jats:styled-content> with adapted bioinformatics tools can bring to the diagnosis of leukaemia patients.<\/jats:p>","DOI":"10.1111\/bjh.13981","type":"journal-article","created":{"date-parts":[[2016,2,22]],"date-time":"2016-02-22T06:21:21Z","timestamp":1456122081000},"page":"413-420","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Multi\u2010loci diagnosis of acute lymphoblastic leukaemia with high\u2010throughput sequencing and bioinformatics analysis"],"prefix":"10.1111","volume":"173","author":[{"given":"Yann","family":"Ferret","sequence":"first","affiliation":[{"name":"Laboratoire d'H\u00e9matologie Centre Hospitalier R\u00e9gional Universitaire de Lille Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Caillault","sequence":"additional","affiliation":[{"name":"Laboratoire 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