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dc.creatorAguilera-Díaz, A. (Almudena)-
dc.creatorVazquez, I. (Iria)-
dc.creatorAriceta, B. (Beñat)-
dc.creatorMañú, A. (Amagoia)-
dc.creatorBlasco-Iturri, Z. (Zuriñe)-
dc.creatorPalomino-Echeverría, S. (Sara)-
dc.creatorLarrayoz, M.J. (María J.)-
dc.creatorGarcía-Sanz, R. (Ramón)-
dc.creatorPrieto-Conde, M.I. (María Isabel)-
dc.creatorChillón, M.C. (María del Carmen)-
dc.creatorAlfonso-Piérola, A. (Ana)-
dc.creatorProsper-Cardoso, F. (Felipe)-
dc.creatorFernandez-Mercado, M. (Marta)-
dc.creatorCalasanz-Abinzano, M.J. (Maria Jose)-
dc.date.accessioned2020-03-23T08:59:06Z-
dc.date.available2020-03-23T08:59:06Z-
dc.date.issued2020-
dc.identifier.citationCalasanz-Abinzano, M. (María José); Fernández-Mercado, M. (Marta); Prósper-Cardoso, F. (Felipe Luis); et al. "Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design". PLOS ONE. 15 (1), 2020, e0227986es
dc.identifier.issn1932-6203-
dc.identifier.urihttps://hdl.handle.net/10171/58897-
dc.description.abstractThe diagnosis of myeloid neoplasms (MN) has significantly evolved through the last few decades. Next Generation Sequencing (NGS) is gradually becoming an essential tool to help clinicians with disease management. To this end, most specialized genetic laboratories have implemented NGS panels targeting a number of different genes relevant to MN. The aim of the present study is to evaluate the performance of four different targeted NGS gene panels based on their technical features and clinical utility. A total of 32 patient bone marrow samples were accrued and sequenced with 3 commercially available panels and 1 custom panel. Variants were classified by two geneticists based on their clinical relevance in MN. There was a difference in panel¿s depth of coverage. We found 11 discordant clinically relevant variants between panels, with a trend to miss long insertions. Our data show that there is a high risk of finding different mutations depending on the panel of choice, due both to the panel design and the data analysis method. Of note, CEBPA, CALR and FLT3 genes, remains challenging the use of NGS for diagnosis of MN in compliance with current guidelines. Therefore, conventional molecular testing might need to be kept in place for the correct diagnosis of MN for now.-
dc.description.sponsorshipThis work was supported by CIMA LAB Diagnostics research program and grants from the Spanish Association against Cancer (AECC, AIO2014), Government of Navarra, Department of Industry, Energy and Innovation (Project DIANA, 0011-1411-2017-000028) (FP, IV, MJL, MFM, MJC, http://www.proyectodiana.es/), and Instituto de Salud Carlos III (PI16/00159 and PI17/00701) (MFM, AAD, FP, https://www.isciii.es/Paginas/ Inicio.aspx). AAD is supported by a CIMA´s fellowship, and IV is supported by Pethema Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.-
dc.language.isoen-
dc.rightsinfo:eu-repo/semantics/openAccess-
dc.titleAssessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design-
dc.typeinfo:eu-repo/semantics/article-
dc.description.noteThis is an open access article distributed under the terms of the Creative Commons Attribution License CCBY-
dc.identifier.doi10.1371/journal.pone.0227986-
dadun.citation.number1-
dadun.citation.publicationNamePlos One-
dadun.citation.startingPagee0227986-
dadun.citation.volume15-

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